ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.2071G>C (p.Gly691Arg)

dbSNP: rs140425651
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004587102 SCV005076200 uncertain significance not specified 2024-04-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278232 SCV001465230 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2020-04-17 no assertion criteria provided clinical testing

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