ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.3171G>A (p.Thr1057=)

gnomAD frequency: 0.00001  dbSNP: rs397516004
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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 RCV000035562 SCV000059212 likely benign not specified 2010-12-28 criteria provided, single submitter clinical testing This variant is not expected to have clinical significance because it does not a lter an amino acid residue and is not located near a splice junction.
Invitae RCV000233078 SCV000284239 likely benign Hypertrophic cardiomyopathy 2023-10-15 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003149618 SCV003838935 likely benign Cardiomyopathy 2021-11-02 criteria provided, single submitter clinical testing

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