ClinVar Miner

Submissions for variant NM_006790.3(MYOT):c.1401T>C (p.Asn467=)

dbSNP: rs145427063
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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) RCV000726159 SCV000342506 uncertain significance not provided 2016-06-02 criteria provided, single submitter clinical testing
GeneDx RCV000726159 SCV000531822 likely benign not provided 2020-09-30 criteria provided, single submitter clinical testing
Invitae RCV001078699 SCV000761569 likely benign Myofibrillar myopathy 3 2023-12-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000726159 SCV001748130 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing MYOT: BP4, BP7
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000726159 SCV001931390 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000726159 SCV001975280 likely benign not provided no assertion criteria provided clinical testing

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