ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.1395G>A (p.Leu465=)

dbSNP: rs760344791
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001491110 SCV001695694 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2A 2023-08-16 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001559255 SCV001781414 uncertain significance Muscular dystrophy, limb-girdle, autosomal dominant 4 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001491110 SCV001781415 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2021-07-14 criteria provided, single submitter clinical testing

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