ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.1624+14_1624+15insA

gnomAD frequency: 0.00026  dbSNP: rs369096037
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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 RCV000035420 SCV000059068 likely benign not specified 2017-03-03 criteria provided, single submitter clinical testing c.1624+14_1624+15insA in intron 17 of MYBPC3: This variant is not expected to ha ve clinical significance because it is not located within the splice consensus s equence. It has been identified in 8/57238 African chromosomes by the Exome Aggr egation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs369096037).
GeneDx RCV001719724 SCV000568914 likely benign not provided 2018-04-27 criteria provided, single submitter clinical testing
Invitae RCV002054562 SCV002362004 benign Hypertrophic cardiomyopathy 2023-11-24 criteria provided, single submitter clinical testing

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