ClinVar Miner

Submissions for variant NM_000232.4(SGCB):c.272G>T (p.Arg91Leu) (rs104893869)

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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 RCV000727513 SCV000709349 likely pathogenic not provided 2017-06-20 criteria provided, single submitter clinical testing
OMIM RCV000009257 SCV000029475 pathogenic Limb-girdle muscular dystrophy, type 2E 1998-05-01 no assertion criteria provided literature only

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