ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.1812C>T (p.Phe604=)

gnomAD frequency: 0.00006  dbSNP: rs144383704
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000919510 SCV001064856 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2A 2024-01-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV000919510 SCV001460842 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2020-02-13 no assertion criteria provided clinical testing

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