ClinVar Miner

Submissions for variant NM_014991.6(WDFY3):c.9094A>G (p.Ile3032Val)

gnomAD frequency: 0.00766  dbSNP: rs17368018
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV002263346 SCV002544878 benign not provided 2024-03-01 criteria provided, single submitter clinical testing WDFY3: BS1, BS2
Fulgent Genetics, Fulgent Genetics RCV002496198 SCV002795209 likely benign Microcephaly 18, primary, autosomal dominant 2022-01-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004534015 SCV004731851 benign WDFY3-related disorder 2021-03-03 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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