"PreventionGenetics, part of Exact Sciences"[submitter] AND "LOC126806 - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 565988	NM_001035.3(RYR2):c.12415A>G (p.Met4139Val)	LOC126806068, RYR2 (M4139V)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GUncertain significance
Select item 227907	NM_001035.3(RYR2):c.12609G>T (p.Ala4203=)	LOC126806068, RYR2	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 227908	NM_001035.3(RYR2):c.12663C>T (p.Ser4221=)	LOC126806068, RYR2	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 43721	NM_001035.3(RYR2):c.12705C>T (p.Phe4235=)	LOC126806068, RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 43722	NM_001035.3(RYR2):c.12842C>T (p.Thr4281Met)	LOC126806068, RYR2 (T4281M)	Single nucleotide variant (missense variant)	not provided +4 more	GLikely benign
Select item 191546	NM_001035.3(RYR2):c.12919C>T (p.Arg4307Cys)	LOC126806068, RYR2 (R4307C)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity

ClinVar