ClinVar Miner

Submissions for variant NM_000258.3(MYL3):c.*9C>T

gnomAD frequency: 0.00006  dbSNP: rs202234617
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000154779 SCV000513825 benign not specified 2015-05-27 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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000154779 SCV000204459 not provided not specified 2014-02-27 no assertion provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003917515 SCV004735492 likely benign MYL3-related disorder 2020-08-20 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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