ClinVar Miner

Submissions for variant NM_014991.6(WDFY3):c.9662del (p.Ser3221fs)

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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 RCV004555472 SCV005044447 uncertain significance Microcephaly 18, primary, autosomal dominant 2023-04-25 criteria provided, single submitter clinical testing ACMG Criteria: PVS1_STR,PM2_SUP

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