ClinVar Miner

Submissions for variant NM_000232.5(SGCB):c.543C>T (p.Ser181=)

gnomAD frequency: 0.00001  dbSNP: rs757115090
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000299109 SCV000339564 uncertain significance not provided 2016-02-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001451120 SCV001654742 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2E 2023-11-11 criteria provided, single submitter clinical testing

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