ClinVar Miner

Submissions for variant NM_001032382.2(PQBP1):c.727C>T (p.Arg243Trp)

dbSNP: rs2063451959
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine RCV003127736 SCV003804138 likely pathogenic Autism spectrum disorder 2022-04-12 criteria provided, single submitter clinical testing
Clinical Genetics Laboratory, Skane University Hospital Lund RCV004697093 SCV005196792 likely pathogenic not provided 2022-05-27 criteria provided, single submitter clinical testing
Service de Génétique Moléculaire, Hôpital Robert Debré RCV001255844 SCV001432468 likely pathogenic Renpenning syndrome no assertion criteria provided clinical testing

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