ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.1704A>G (p.Glu568=)

gnomAD frequency: 0.00005  dbSNP: rs143066571
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001417614 SCV001619819 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2A 2024-01-22 criteria provided, single submitter clinical testing
Athena Diagnostics RCV004998884 SCV005621719 likely benign not specified 2024-11-18 criteria provided, single submitter clinical testing

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