ClinVar Miner

Submissions for variant NM_000232.5(SGCB):c.667C>T (p.Arg223Cys)

gnomAD frequency: 0.00003  dbSNP: rs570232197
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000594412 SCV000708789 uncertain significance not provided 2017-05-23 criteria provided, single submitter clinical testing
Pars Genome Lab RCV001526430 SCV001736816 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2E 2021-05-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001526430 SCV001806532 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2E 2021-07-22 criteria provided, single submitter clinical testing

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