ClinVar Miner

Submissions for variant NM_000231.3(SGCG):c.690T>A (p.Ser230Arg)

dbSNP: rs875989949
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV000211579 SCV004238653 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C 2023-05-18 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000211579 SCV000268691 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C 2016-05-09 no assertion criteria provided clinical testing

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