ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.1140C>T (p.Asp380=) (rs373744398)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000733000 SCV000861008 uncertain significance not provided 2018-05-04 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000733000 SCV001477219 likely benign not provided 2020-03-30 criteria provided, single submitter clinical testing
Invitae RCV001422852 SCV001625411 likely benign Qualitative or quantitative defects of dysferlin 2020-11-17 criteria provided, single submitter clinical testing

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