ClinVar Miner

Submissions for variant NM_000231.3(SGCG):c.186G>A (p.Trp62Ter)

dbSNP: rs1555234810
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673395 SCV000798593 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C 2018-03-19 criteria provided, single submitter clinical testing
Baylor Genetics RCV000673395 SCV004201056 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C 2023-02-26 criteria provided, single submitter clinical testing

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