ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.636C>T (p.Leu212=)

dbSNP: rs2141167614
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002180321 SCV002345618 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2A 2021-11-05 criteria provided, single submitter clinical testing

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