ClinVar Miner

Submissions for variant NM_000231.3(SGCG):c.352T>C (p.Ser118Pro)

gnomAD frequency: 0.00001  dbSNP: rs766126721
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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) RCV000730562 SCV000858309 uncertain significance not provided 2017-11-27 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003141728 SCV003819967 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2C 2020-03-30 criteria provided, single submitter clinical testing

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