ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.512G>A (p.Gly171Glu)

dbSNP: rs2141164606
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001580649 SCV001810310 uncertain significance Muscular dystrophy, limb-girdle, autosomal dominant 4 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001580648 SCV001810311 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2021-07-22 criteria provided, single submitter clinical testing

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