ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.643T>C (p.Ser215Pro)

dbSNP: rs2053478068
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Genetics and Mitochondrial Research group, Latvian Biomedical Research and Study center RCV001290339 SCV001478392 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2020-06-01 criteria provided, single submitter case-control

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