ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.3860-15T>G

gnomAD frequency: 0.00003  dbSNP: rs200883903
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Total submissions: 8
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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 RCV000037484 SCV000061142 uncertain significance not specified 2015-04-04 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The c.3860-15T>G va riant in MYH6 has been identified by our laboratory in 1 Pacific Islander adult with HCM. It was also identified in 0.2% (16/8654) of East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs 200883903). This variant is located in the 3' splice region. Computational tools do not suggest an impact to splicing. However, this information is not predicti ve enough to determine pathogenicity. In summary, while the clinical significanc e of the c.3860-15T>G variant is uncertain, its frequency suggests that it is mo re likely to be benign.
GeneDx RCV000037484 SCV000533154 likely benign not specified 2016-11-01 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV002054663 SCV002452964 likely benign Hypertrophic cardiomyopathy 14 2024-01-19 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000037484 SCV004222937 benign not specified 2023-11-20 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000037484 SCV001925471 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001701649 SCV001931406 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001701649 SCV001954377 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001701649 SCV001963925 likely benign not provided no assertion criteria provided clinical testing

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