ClinVar Miner

Submissions for variant NM_003803.4(MYOM1):c.4685+11G>T

gnomAD frequency: 0.58772  dbSNP: rs2298539
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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 RCV000213686 SCV000269367 benign not specified 2014-11-24 criteria provided, single submitter clinical testing 4685+11G>T in intron 35 of MYOM1: This variant is not expected to have clinical significance because it is not located within the conserved splice consensus seq uence. It has been identified in 46.3% (3809/8224) of European American chromoso mes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs .washington.edu/EVS; dbSNP rs2298539).
GeneDx RCV001651075 SCV001871229 benign not provided 2018-09-04 criteria provided, single submitter clinical testing
Invitae RCV002054384 SCV002322272 benign Hypertrophic cardiomyopathy 2024-02-01 criteria provided, single submitter clinical testing

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