ClinVar Miner

Submissions for variant NM_001348323.3(TRIP12):c.399dup (p.Pro134fs)

dbSNP: rs2060119917
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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 Genomic Statistics and Bioinformatics, University Hospital Bonn RCV001293635 SCV001482023 pathogenic Clark-Baraitser syndrome criteria provided, single submitter clinical testing ACMG classification: class 5 (PVS1, PS2, PM2)

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