ClinVar Miner

Submissions for variant NM_000337.5(SGCD):c.756G>A (p.Thr252=) (rs756467431)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000407797 SCV000337522 uncertain significance not provided 2015-12-05 criteria provided, single submitter clinical testing
Invitae RCV001084796 SCV000638177 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2F 2019-12-31 criteria provided, single submitter clinical testing

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