"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "LOC1001 - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 715512	NM_006185.4(NUMA1):c.3152C>T (p.Ala1051Val)	NUMA1, LOC100128494 (A1051V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 790647	NM_006185.4(NUMA1):c.2937T>C (p.Asn979=)	LOC100128494, NUMA1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 778043	NM_006185.4(NUMA1):c.2915G>A (p.Arg972Gln)	LOC100128494, NUMA1 (R972Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 721427	NM_006185.4(NUMA1):c.2178A>G (p.Ala726=)	LOC100128494, NUMA1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 711463	NM_006185.4(NUMA1):c.1430A>G (p.Asn477Ser)	LOC100128494, NUMA1 (N477S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 711555	NM_006185.4(NUMA1):c.1328G>A (p.Arg443Gln)	NUMA1, LOC100128494 (R443Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 716672	NM_006185.4(NUMA1):c.981G>A (p.Leu327=)	NUMA1, LOC100128494	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 711556	NM_006185.4(NUMA1):c.725A>G (p.Lys242Arg)	LOC126861257, NUMA1 +1 more (K242R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign

ClinVar