ClinVar Miner

Submissions for variant NM_002480.3(PPP1R12A):c.2187del (p.Glu730fs)

dbSNP: rs2137028448
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein RCV001528129 SCV001739337 pathogenic Genitourinary and/or brain malformation syndrome 2021-04-16 no assertion criteria provided clinical testing

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