ClinVar Miner

Submissions for variant NM_015937.6(PIGT):c.763_766AAGA[1] (p.Lys256fs) (rs776974834)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin RCV000735856 SCV000778458 risk factor Paroxysmal nocturnal hemoglobinuria 2 2018-06-01 no assertion criteria provided clinical testing The variant c.761_764delGAAA has been reported in 1 German patient with atypical PNH (PIGT-PNH) in combination with a large deletion of the CDR including the PIGT gene on the other allele.

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