"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "SH2D3C" - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 663424	NC_000009.11:g.(?_130216797)_(130953151_?)dup	LOC108281127, LOC113839508 +93 more	Duplication	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GUncertain significance
Select item 662282	NC_000009.12:g.(?_127612384)_(128566997_?)del	AK1, BBLN +130 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts +1 more	GPathogenic
Select item 775279	NM_170600.3(SH2D3C):c.1737G>A (p.Lys579=)	SH2D3C	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3245119	NC_000009.11:g.(?_130374683)_(131329276_?)del	AK1, BBLN +32 more	Deletion	Developmental and epileptic encephalopathy, 31A +1 more	GPathogenic
Select item 3245057	NC_000009.11:g.(?_130216807)_(133557056_?)dup	ASS1, AK1 +70 more	Duplication	Dystonic disorder	GUncertain significance
Select item 1457478	NC_000009.11:g.(?_130216807)_(130953136_?)del	AK1, BBLN +22 more	Deletion	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GPathogenic
Select item 1056169	NC_000009.11:g.(?_129376729)_(131016993_?)del	LRSAM1, MIR199B +33 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic

ClinVar