ClinVar Miner

Submissions for variant NM_001791.4(CDC42):c.291G>T (p.Trp97Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV004759643 SCV005368426 likely pathogenic Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome 2024-09-02 criteria provided, single submitter clinical testing Criteria applied: PS2_MOD,PM2,PP2,PP3

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