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

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 779223	NM_018265.4(INAVA):c.63G>C (p.Arg21=)	INAVA, LOC122149340	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 709585	NM_018265.4(INAVA):c.63G>A (p.Arg21=)	LOC122149340, INAVA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 786759	NM_001142569.3(INAVA):c.44T>A (p.Ile15Asn)	INAVA (I15N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 744622	NM_001142569.3(INAVA):c.188C>T (p.Thr63Met)	INAVA (T148M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 781798	NM_001142569.3(INAVA):c.255C>T (p.Ile85=)	INAVA	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 767740	NM_001142569.3(INAVA):c.1357C>T (p.Arg453Cys)	INAVA (R538C +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 781799	NM_001142569.3(INAVA):c.1405C>T (p.Arg469Cys)	INAVA (R554C +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	RPS6KC1, SERTAD4 +185 more	Deletion	not provided	GPathogenic
Select item 2425293	NC_000001.10:g.(?_200522516)_(206945780_?)dup	ADIPOR1, ADORA1 +90 more	Duplication	Epilepsy, familial adult myoclonic, 5	GUncertain significance
Select item 2422293	NC_000001.10:g.(?_200522516)_(208391267_?)dup	ADIPOR1, ADORA1 +110 more	Duplication	not provided	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	ARL8A, CNIH4 +956 more	Duplication	Gastrointestinal stromal tumor +2 more	GUncertain significance