ClinVar Miner

Submissions for variant NM_001375834.1(WIPF1):c.42G>A (p.Thr14=)

gnomAD frequency: 0.00937  dbSNP: rs111761533
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000537721 SCV000652206 benign Wiskott-Aldrich syndrome 2 2024-01-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004708944 SCV005238443 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003952838 SCV004774278 benign WIPF1-related disorder 2019-07-15 no assertion criteria provided 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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