ClinVar Miner

Submissions for variant NM_006790.3(MYOT):c.1190+7T>C

gnomAD frequency: 0.00311  dbSNP: rs192405601
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081462 SCV000113393 benign not specified 2013-05-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000081462 SCV000311587 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000081462 SCV000533555 likely benign not specified 2018-02-13 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000541018 SCV000638806 benign Myofibrillar myopathy 3 2025-01-28 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000081462 SCV001476560 benign not specified 2024-07-05 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000081462 SCV005726245 benign not specified 2024-11-15 criteria provided, single submitter clinical testing

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