ClinVar Miner

Submissions for variant NM_001375834.1(WIPF1):c.207C>T (p.Gly69=)

gnomAD frequency: 0.00001  dbSNP: rs138616786
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002065787 SCV002484572 likely benign Wiskott-Aldrich syndrome 2 2023-08-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003432901 SCV004150119 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing WIPF1: BP4, BP7

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