Submissions for variant NM_000258.3(MYL3):c.482-17C>T

gnomAD frequency: 0.00030  dbSNP: rs201289145

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000127033	SCV000170567	benign	not specified	2013-11-15	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV002055691	SCV002330978	likely benign	Hypertrophic cardiomyopathy	2025-01-23	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV005229952	SCV005877202	likely benign	Hypertrophic cardiomyopathy 8	2024-10-07	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000127033	SCV001918021	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001701519	SCV001927728	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001701519	SCV001958253	likely benign	not provided		no assertion criteria provided	clinical testing