ClinVar Miner

Submissions for variant NM_006790.3(MYOT):c.571G>C (p.Gly191Arg)

gnomAD frequency: 0.00012  dbSNP: rs199789331
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000241609 SCV000311590 likely benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000241609 SCV000344187 likely benign not specified 2018-05-25 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000241609 SCV000614147 benign not specified 2017-04-13 criteria provided, single submitter clinical testing
Invitae RCV000639979 SCV000761565 likely benign Myofibrillar myopathy 3 2023-11-13 criteria provided, single submitter clinical testing

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