ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.1624+14G>C

gnomAD frequency: 0.00001  dbSNP: rs397515914
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Total submissions: 2
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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 RCV000035419 SCV000059067 likely benign not specified 2012-11-21 criteria provided, single submitter clinical testing 1624+14G>C in intron 17 of MYBPC3: This variant is not expected to have clinical significance because it is not located within the splice consensus sequence. 1624+14G>C in intron 17 of MYBPC3 (allele frequency = n/a)
Invitae RCV002054561 SCV002435965 likely benign Hypertrophic cardiomyopathy 2023-11-08 criteria provided, single submitter clinical testing

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