ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.909G>A (p.Leu303=)

gnomAD frequency: 0.02711  dbSNP: rs17091623
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000037542 SCV000061200 benign not specified 2012-05-31 criteria provided, single submitter clinical testing 8.7% (324/3738) of Afr Amer chrom in ESP.
Ambry Genetics RCV000250459 SCV000318212 benign Cardiovascular phenotype 2015-08-04 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV000037542 SCV000515389 benign not specified 2016-10-25 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.
Invitae RCV000458592 SCV000557876 benign Hypertrophic cardiomyopathy 14 2024-01-31 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769429 SCV000900822 benign Cardiomyopathy 2016-04-06 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000037542 SCV001918114 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000037542 SCV001952981 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000037542 SCV001974520 benign not specified no assertion criteria provided clinical testing

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