ClinVar Miner

Submissions for variant NM_001375834.1(WIPF1):c.339C>G (p.Ser113=)

gnomAD frequency: 0.00619  dbSNP: rs76308107
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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 RCV000527840 SCV000652205 benign Wiskott-Aldrich syndrome 2 2024-01-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004708943 SCV005238441 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003905433 SCV004723905 benign WIPF1-related disorder 2019-08-29 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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