"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "SLC25A2 - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 712231	NM_024103.3(SLC25A23):c.1068C>T (p.Tyr356=)	SLC25A23	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 777386	NM_024103.3(SLC25A23):c.342G>A (p.Ser114=)	SLC25A23	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 777387	NM_024103.3(SLC25A23):c.192C>T (p.Gly64=)	SLC25A23	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3242628	NC_000019.9:g.(?_5691310)_(8008536_?)dup	ACER1, ACSBG2 +65 more	Duplication	not provided	GUncertain significance
Select item 2426564	NC_000019.9:g.(?_6361586)_(8212364_?)del	CRB3, CTXN1 +51 more	Deletion	Mucolipidosis type IV	GPathogenic

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