ClinVar Miner

Submissions for variant NM_004371.4(COPA):c.728A>G (p.Asp243Gly) (rs794727994)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000180777 SCV000256755 pathogenic Autoimmune interstitial lung, joint, and kidney disease 2015-04-20 criteria provided, single submitter research Segregates with the phenotype in an affected family. The family showed incomplete penetrance, with unaffected carriers over three generations.
OMIM RCV000180777 SCV000233265 pathogenic Autoimmune interstitial lung, joint, and kidney disease 2015-06-01 no assertion criteria provided literature only

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