ClinVar Miner

Submissions for variant NM_006790.3(MYOT):c.630G>A (p.Ser210=)

gnomAD frequency: 0.00001  dbSNP: rs375308029
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000247228 SCV000311591 likely benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000247228 SCV000338415 benign not specified 2016-01-05 criteria provided, single submitter clinical testing
Invitae RCV000872884 SCV001014773 benign Myofibrillar myopathy 3 2023-12-18 criteria provided, single submitter clinical testing
GeneDx RCV001582866 SCV001813555 likely benign not provided 2020-06-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001582866 SCV004161408 benign not provided 2023-01-01 criteria provided, single submitter clinical testing MYOT: BP4, BP7, BS1, BS2; PKD2L2-DT: BS1, BS2

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