ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.3814+14G>A

gnomAD frequency: 0.00001  dbSNP: rs727504656
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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 RCV000155920 SCV000205631 likely benign not specified 2013-08-07 criteria provided, single submitter clinical testing 3814+14G>A in intron 33 of MYBPC3: This variant is not expected to have clinical significance because it is not located within the splice consensus sequence. 3 814+14G>A in intron 33 of MYBPC3 (allele frequency = n/a)
Invitae RCV002056104 SCV002469931 likely benign Hypertrophic cardiomyopathy 2024-01-14 criteria provided, single submitter clinical testing

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