ClinVar Miner

Submissions for variant NM_006268.5(DPF2):c.970T>G (p.Cys324Gly)

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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 Medical Genetics, University of Zurich RCV003989273 SCV004805864 likely pathogenic Coffin-Siris syndrome 7 2024-03-26 criteria provided, single submitter clinical testing ACMG criteria applied: PM1 (affects a highly conserved cysteine residue in the PHD1 zinc finger hotspot domain), PM2 (absent from controls), PP1 (Cosegregation with disease in multiple affected family members), PP3 (in silico programs predict a deleterious effect)

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