"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "HGS"[ge - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 773332	NM_004712.5(HGS):c.199-9C>T	HGS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 748372	NM_004712.5(HGS):c.416-9T>C	HGS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 725635	NM_004712.5(HGS):c.739C>G (p.Gln247Glu)	HGS (Q247E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 781336	NM_004712.5(HGS):c.891G>T (p.Ser297=)	HGS	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 778755	NM_004712.5(HGS):c.1200G>C (p.Glu400Asp)	HGS (E400D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 731816	NM_004712.5(HGS):c.1374C>T (p.Asn458=)	HGS	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 708032	NM_004712.5(HGS):c.1567-7C>T	HGS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 730172	NM_004712.5(HGS):c.1567-6G>A	HGS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 775394	NM_004712.5(HGS):c.1891A>G (p.Met631Val)	HGS (M631V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 745745	NM_004712.5(HGS):c.1974C>T (p.Pro658=)	HGS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 778147	NM_004712.5(HGS):c.1998T>A (p.Thr666=)	HGS	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3243134	NC_000017.10:g.(?_79477716)_(80901020_?)dup	ACTG1, ALYREF +52 more	Duplication	not provided	GUncertain significance
Select item 2425656	NC_000017.10:g.(?_79618104)_(79894690_?)dup	ALYREF, ANAPC11 +17 more	Duplication	not provided	GUncertain significance
Select item 2424500	NC_000017.10:g.(?_79477716)_(80900339_?)dup	ACTG1, ALYREF +52 more	Duplication	not provided	GUncertain significance
Select item 2424499	NC_000017.10:g.(?_79618104)_(79674270_?)del	ARL16, CCDC137 +4 more	Deletion	not provided	GPathogenic