ClinVar Miner

Submissions for variant NM_002480.3(PPP1R12A):c.965_966insCC (p.Leu323fs)

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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 RCV005232573 SCV005873538 pathogenic Genitourinary and/or brain malformation syndrome 2023-08-30 no assertion criteria provided clinical testing

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