ClinVar Miner

Submissions for variant NM_000231.3(SGCG):c.385+2T>G

dbSNP: rs200206447
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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) RCV000268479 SCV000345125 pathogenic not provided 2016-09-23 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003485572 SCV004238652 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C 2023-02-05 criteria provided, single submitter clinical testing

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