ClinVar Miner

Submissions for variant NM_000232.5(SGCB):c.67C>T (p.Arg23Cys)

gnomAD frequency: 0.00001  dbSNP: rs529566743
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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) RCV000289160 SCV000343422 uncertain significance not provided 2016-06-30 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003137899 SCV003827595 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2E 2023-10-02 criteria provided, single submitter clinical testing

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