ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.4993G>A (p.Val1665Ile) (rs147056383)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000080298 SCV000112193 likely benign not specified 2017-01-18 criteria provided, single submitter clinical testing
Counsyl RCV000669830 SCV000794620 uncertain significance Limb-girdle muscular dystrophy, type 2B 2017-10-02 criteria provided, single submitter clinical testing
Invitae RCV000864868 SCV001005736 benign not provided 2019-03-04 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000864868 SCV001143822 likely benign not provided 2019-01-10 criteria provided, single submitter clinical testing

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