ClinVar Miner

Submissions for variant NM_003803.4(MYOM1):c.4718G>A (p.Arg1573Gln)

gnomAD frequency: 0.00758  dbSNP: rs117342470
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Total submissions: 3
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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 RCV000217979 SCV000269368 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Arg1573Gln in exon 37 of MYOM1: This variant is not expected to have clinical si gnificance because it has been identified in 4.5% (6/132) of Mexican chromosomes from a broad population by the 1000 Genomes Project (http://www.ncbi.nlm.nih.go v/projects/SNP; dbSNP rs117342470).
Invitae RCV000231050 SCV000288005 benign Hypertrophic cardiomyopathy 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621693 SCV000739880 benign Cardiovascular phenotype 2013-05-24 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance

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