ClinVar Miner

Submissions for variant NM_000232.5(SGCB):c.789C>T (p.Val263=)

gnomAD frequency: 0.00004  dbSNP: rs371225165
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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) RCV000595135 SCV000702155 uncertain significance not provided 2018-07-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001403659 SCV001605535 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2E 2023-12-02 criteria provided, single submitter clinical testing

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