ClinVar Miner

Submissions for variant NM_004371.4(COPA):c.721G>A (p.Glu241Lys) (rs794727995)

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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 RCV000180778 SCV000256757 pathogenic Autoimmune interstitial lung, joint, and kidney disease 2015-04-20 criteria provided, single submitter research Segregates with the phenotype in an affected family, in vitro functional studies. The family showed incomplete penetrance, with unaffected carriers over six generations.
OMIM RCV000180778 SCV000233266 pathogenic Autoimmune interstitial lung, joint, and kidney disease 2015-06-01 no assertion criteria provided literature only

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