ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.697_699del (p.Asn233del) (rs761863400)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000384984 SCV000477652 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000850366 SCV000992549 likely pathogenic Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 2019-03-20 criteria provided, single submitter research ACMG codes: PM2; PM3; PM4; PP3; PP5; PM2

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