ClinVar Miner

Submissions for variant NM_000232.5(SGCB):c.610T>C (p.Ser204Pro)

dbSNP: rs886044156
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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) RCV000376124 SCV000343696 uncertain significance not provided 2016-07-12 criteria provided, single submitter clinical testing
Baylor Genetics RCV003475917 SCV004201004 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E 2024-01-02 criteria provided, single submitter clinical testing

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