ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.2367G>A (p.Leu789=)

dbSNP: rs776998932
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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 RCV001460428 SCV001664299 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2A 2024-02-06 criteria provided, single submitter clinical testing

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