"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "SCG3"[g - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 777461	NM_013243.4(SCG3):c.312T>C (p.Asn104=)	SCG3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2423931	NC_000015.9:g.(?_50731271)_(54025330_?)dup	AP4E1, ARPP19 +21 more	Duplication	not provided	GUncertain significance
Select item 2423927	NC_000015.9:g.(?_50999997)_(54025330_?)del	AP4E1, ARPP19 +18 more	Deletion	Spastic paraplegia	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance

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