ClinVar Miner

Submissions for variant NM_017934.7(PHIP):c.4174_4175insATTTTCAGTAATTATTTTCAGTAATT (p.Ser1392delinsTyrPheGlnTer)

dbSNP: rs2127683593
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV001824099 SCV002073685 pathogenic Schizophrenia 2022-02-07 criteria provided, single submitter clinical testing truncating variant, absent from gnomAD

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