ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.747C>G (p.Tyr249Ter)

dbSNP: rs757448865
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV001263855 SCV001441952 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2020-04-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499453 SCV002811574 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A; Muscular dystrophy, limb-girdle, autosomal dominant 4 2021-10-16 criteria provided, single submitter clinical testing
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV001263855 SCV005052055 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2024-02-01 criteria provided, single submitter curation
Baylor Genetics RCV003462840 SCV004213839 likely pathogenic Muscular dystrophy, limb-girdle, autosomal dominant 4 2021-11-11 flagged submission clinical testing

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