ClinVar Miner

Submissions for variant NM_003803.4(MYOM1):c.117C>T (p.Tyr39=)

gnomAD frequency: 0.00139  dbSNP: rs375113650
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000547110 SCV000623820 benign Hypertrophic cardiomyopathy 2024-01-17 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000608529 SCV000711574 likely benign not specified 2016-06-20 criteria provided, single submitter clinical testing p.Tyr39Tyr in exon 2 of MYOM1: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 0.4% (33/9420) of A frican chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadi nstitute.org; dbSNP rs375113650).
Ambry Genetics RCV002341250 SCV002637550 likely benign Inborn genetic diseases 2022-02-11 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
PreventionGenetics, part of Exact Sciences RCV003925566 SCV004741137 likely benign MYOM1-related condition 2019-02-19 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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