ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.654+12G>A

gnomAD frequency: 0.00006  dbSNP: rs397516065
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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 RCV000035657 SCV000059308 likely benign not specified 2013-02-07 criteria provided, single submitter clinical testing 654+12G>A in intron 5 of MYBPC3: This variant is not expected to have clinical s ignificance because it is not located within the splice consensus sequence. 65 4+12G>A in intron 5 of MYBPC3 (allele frequency = n/a)
GeneDx RCV001534123 SCV001751021 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Invitae RCV002054567 SCV002390319 likely benign Hypertrophic cardiomyopathy 2023-10-23 criteria provided, single submitter clinical testing

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