ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.1290A>G (p.Thr430=)

gnomAD frequency: 0.00003  dbSNP: rs757482856
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000733402 SCV000861468 uncertain significance not provided 2018-05-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001505879 SCV001710793 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2A 2024-09-23 criteria provided, single submitter clinical testing

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