ClinVar Miner

Submissions for variant NM_015937.6(PIGT):c.197del (p.Tyr66fs) (rs1555876283)

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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 RCV000663337 SCV000778459 risk factor Paroxysmal nocturnal hemoglobinuria 2 2017-06-06 no assertion criteria provided clinical testing The variant c.197delA 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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