ClinVar Miner

Submissions for variant NM_000232.4(SGCB):c.92G>T (p.Ser31Ile) (rs115928999)

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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 RCV000078413 SCV000110259 benign not specified 2013-05-29 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000078413 SCV000303100 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000547914 SCV000642390 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2E 2020-12-07 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV001288755 SCV001476084 likely benign not provided 2020-03-12 criteria provided, single submitter clinical testing

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