ClinVar Miner

Submissions for variant NM_000231.3(SGCG):c.684del (p.His229fs)

dbSNP: rs2137528312
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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 RCV001783740 SCV002019205 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C 2019-06-26 criteria provided, single submitter clinical testing
Baylor Genetics RCV001783740 SCV005056723 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C 2023-11-23 criteria provided, single submitter clinical testing

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