ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.1311G>C (p.Val437=)

dbSNP: rs1060504240
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001171142 SCV001333826 likely benign Cardiomyopathy 2018-01-22 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001171142 SCV001352091 likely benign Cardiomyopathy 2019-12-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001472762 SCV001676900 likely benign Hypertrophic cardiomyopathy 2023-10-05 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001472762 SCV004834640 likely benign Hypertrophic cardiomyopathy 2023-12-07 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001700386 SCV001921515 benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000467762 SCV001962885 likely benign not provided no assertion criteria provided clinical testing

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