ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.3471C>T (p.Pro1157=)

dbSNP: rs962554743
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000937887 SCV001083681 likely benign Hypertrophic cardiomyopathy 2023-11-07 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001186706 SCV001353260 likely benign Cardiomyopathy 2018-11-21 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529744 SCV001743731 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001529744 SCV001975084 likely benign not provided no assertion criteria provided clinical testing

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