"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "LOC1300 - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2983563	NM_001142864.4(PIEZO1):c.1195+15C>G	HSALR1, LOC130059751 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2899583	NM_001142864.4(PIEZO1):c.1195+9C>T	PIEZO1, LOC130059751 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2058257	NM_001142864.4(PIEZO1):c.1187G>A (p.Arg396Gln)	HSALR1, LOC130059751 +1 more (R396Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2165264	NM_001142864.4(PIEZO1):c.1179_1180delinsGC (p.Val394Leu)	LOC130059751, PIEZO1 +1 more (V394L)	Indel (missense variant)	not provided	GLikely benign
Select item 440051	NM_001142864.4(PIEZO1):c.1180G>C (p.Val394Leu)	LOC130059751, PIEZO1 +1 more (V394L)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 712742	NM_001142864.4(PIEZO1):c.1179C>G (p.Ser393=)	HSALR1, LOC130059751 +1 more	Single nucleotide variant (synonymous variant)	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema +2 more	GBenign/Likely benign

ClinVar