ClinVar Miner

Submissions for variant NM_000023.4(SGCA):c.183dup (p.Tyr62fs)

dbSNP: rs886044688
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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) RCV000339036 SCV000345922 pathogenic not provided 2016-09-15 criteria provided, single submitter clinical testing The c.183dupC SGCA pathogenic variant has not been reported in individuals with disease but is of a type expected to cause disease. AKT 9/15/16
Revvity Omics, Revvity RCV003133209 SCV003808104 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2022-03-15 criteria provided, single submitter clinical testing
Baylor Genetics RCV003133209 SCV004203176 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2023-05-28 criteria provided, single submitter clinical testing

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