ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.2112C>T (p.Asp704=)

gnomAD frequency: 0.00002  dbSNP: rs547477069
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001176917 SCV001341017 likely benign Cardiomyopathy 2018-12-01 criteria provided, single submitter clinical testing
GeneDx RCV001528952 SCV001897663 likely benign not provided 2021-05-26 criteria provided, single submitter clinical testing
Invitae RCV002068178 SCV002467120 likely benign Hypertrophic cardiomyopathy 2022-02-08 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001528952 SCV001741577 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001701297 SCV001920673 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001528952 SCV001926887 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001528952 SCV001953259 likely benign not provided no assertion criteria provided clinical testing

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