ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.3979-7_3979-5del

dbSNP: rs397516764
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000037490 SCV000061148 uncertain significance not specified 2014-06-11 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
Labcorp Genetics (formerly Invitae), Labcorp RCV000473729 SCV000557921 likely benign Hypertrophic cardiomyopathy 14 2024-11-21 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770439 SCV000901882 likely benign Cardiomyopathy 2019-09-16 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529635 SCV001743425 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000037490 SCV001918382 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001529635 SCV001929877 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001529635 SCV001959066 likely benign not provided no assertion criteria provided clinical testing

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