ClinVar Miner

Submissions for variant NM_014991.6(WDFY3):c.8894C>A (p.Pro2965His)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MVZ Medizinische Genetik Mainz RCV004545951 SCV005040930 uncertain significance Microcephaly 18, primary, autosomal dominant 2022-12-05 criteria provided, single submitter clinical testing ACMG Criteria: PM2_SUP, PP2, PP3 (ACMG Version 3)

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