ClinVar Miner

Submissions for variant NM_000231.3(SGCG):c.298-2A>C

dbSNP: rs1555240119
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670718 SCV000795610 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C 2017-11-10 criteria provided, single submitter clinical testing
Baylor Genetics RCV000670718 SCV004201061 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C 2023-11-15 criteria provided, single submitter clinical testing

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