"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "KY"[gen - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1037666	NM_178554.6(KY):c.1889G>A (p.Ser630Asn)	CEP63, KY (S609N +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 732035	NM_178554.6(KY):c.1777C>T (p.Arg593Trp)	CEP63, KY (R572W +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 739169	NM_178554.6(KY):c.1596G>A (p.Lys532=)	KY, CEP63	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 756244	NM_178554.6(KY):c.1564G>A (p.Glu522Lys)	CEP63, KY (E501K +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 782433	NM_178554.6(KY):c.1563C>T (p.Thr521=)	CEP63, KY	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1001027	NM_178554.6(KY):c.1529G>A (p.Arg510His)	CEP63, KY (R489H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 731346	NM_178554.6(KY):c.1491C>T (p.His497=)	CEP63, KY +1 more	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 709140	NM_178554.6(KY):c.1395G>A (p.Lys465=)	CEP63, KY +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 737895	NM_178554.6(KY):c.1131G>A (p.Pro377=)	CEP63, KY	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 711861	NM_178554.6(KY):c.1090+9G>A	CEP63, KY (G325R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 789938	NM_178554.6(KY):c.1078A>T (p.Met360Leu)	CEP63, KY (M318L +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 731323	NM_178554.6(KY):c.988C>T (p.Pro330Ser)	CEP63, KY (P330S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 738716	NM_178554.6(KY):c.969C>T (p.Asn323=)	KY, CEP63	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 736271	NM_178554.6(KY):c.861C>T (p.Ser287=)	CEP63, KY	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 750080	NM_178554.6(KY):c.711-4C>G	CEP63, KY	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 735946	NM_178554.6(KY):c.561C>T (p.Arg187=)	CEP63, KY	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 74875	NM_178554.6(KY):c.508G>A (p.Glu170Lys)	KY, CEP63 (E170K +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 740724	NM_178554.6(KY):c.483+8A>G	CEP63, KY	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 747034	NM_178554.6(KY):c.271C>T (p.Leu91=)	CEP63, KY	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 727076	NM_178554.6(KY):c.199+10_199+11del	CEP63, KY	Microsatellite (intron variant)	not provided	GBenign
Select item 737425	NM_178554.6(KY):c.117G>C (p.Ser39=)	CEP63, KY	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 729671	NM_178554.6(KY):c.84T>C (p.Gly28=)	CEP63, KY	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

ClinVar

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Items: 22