ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.3628-6T>C

gnomAD frequency: 0.00001  dbSNP: rs1057520329
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000440006 SCV000513765 likely benign not specified 2016-06-06 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770320 SCV000901754 uncertain significance Cardiomyopathy 2017-09-19 criteria provided, single submitter clinical testing
Invitae RCV002061440 SCV002415758 likely benign Hypertrophic cardiomyopathy 2023-10-14 criteria provided, single submitter clinical testing

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