ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.246G>A (p.Pro82=)

gnomAD frequency: 0.00034  dbSNP: rs146529432
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000252446 SCV000301883 likely benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000252446 SCV000331185 likely benign not specified 2015-11-23 criteria provided, single submitter clinical testing
GeneDx RCV001705327 SCV000730402 likely benign not provided 2020-12-08 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 16650086, 18055493)
Invitae RCV000874543 SCV001016733 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2A 2024-01-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV000874543 SCV001456715 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2020-04-17 no assertion criteria provided clinical testing

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