ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.655-18G>A

gnomAD frequency: 0.00890  dbSNP: rs113249211
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000612295 SCV000744870 benign Hypertrophic cardiomyopathy 4 2015-09-21 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001533914 SCV001471011 benign not provided 2024-05-14 criteria provided, single submitter clinical testing
GeneDx RCV001533914 SCV001750790 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002054001 SCV002491855 benign Hypertrophic cardiomyopathy 2025-02-02 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001533914 SCV005320316 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000612295 SCV000733064 benign Hypertrophic cardiomyopathy 4 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001706096 SCV001917034 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001706096 SCV001953976 benign not specified no assertion criteria provided clinical testing
Cohesion Phenomics RCV002054001 SCV003800608 benign Hypertrophic cardiomyopathy 2022-10-10 no assertion criteria provided clinical testing

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