ClinVar Miner

Submissions for variant NM_003803.4(MYOM1):c.290+14C>G

gnomAD frequency: 0.30460  dbSNP: rs7232679
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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 RCV000219214 SCV000269357 benign not specified 2014-11-24 criteria provided, single submitter clinical testing 290+14C>G in intron 2 of MYOM1: This variant is not expected to have clinical si gnificance because it is not located within the conserved splice consensus seque nce. It has been identified in 35.1% (1424/4058) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.wa shington.edu/EVS; dbSNP rs7232679).
GeneDx RCV001675676 SCV001893161 benign not provided 2018-09-04 criteria provided, single submitter clinical testing
Invitae RCV002057077 SCV002474645 benign Hypertrophic cardiomyopathy 2024-02-01 criteria provided, single submitter clinical testing

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