ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.505+9G>A

gnomAD frequency: 0.00001  dbSNP: rs890255177
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000828217 SCV000969901 likely benign not provided 2018-06-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001400528 SCV001602332 likely benign Hypertrophic cardiomyopathy 2023-03-21 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001798988 SCV002042219 uncertain significance Cardiomyopathy 2020-06-18 criteria provided, single submitter clinical testing

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