ClinVar Miner

Submissions for variant NM_003803.4(MYOM1):c.4222G>A (p.Asp1408Asn)

gnomAD frequency: 0.05400  dbSNP: rs3765623
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Total submissions: 5
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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 RCV000219743 SCV000269363 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Asp1408Asn in exon 30 of MYOM1: This variant is not expected to have clinical si gnificance because it has been identified in 7.2% (588/8212) of European America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs3765623).
Ambry Genetics RCV000621720 SCV000739822 benign Cardiovascular phenotype 2013-01-08 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
Invitae RCV001517499 SCV001726010 benign Hypertrophic cardiomyopathy 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001668378 SCV001883724 benign not provided 2018-09-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003977589 SCV004789758 benign MYOM1-related condition 2019-10-22 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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