ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.1404C>T (p.Asp468=)

gnomAD frequency: 0.00006  dbSNP: rs534326487
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
Invitae RCV000874872 SCV001017105 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2A 2023-12-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV000874872 SCV001460834 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2020-02-13 no assertion criteria provided clinical testing

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