ClinVar Miner

Submissions for variant NM_000377.3(WAS):c.1081C>A (p.Pro361Thr)

gnomAD frequency: 0.00005  dbSNP: rs201657175
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000990813 SCV001141857 uncertain significance X-linked severe congenital neutropenia 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001517040 SCV001725433 benign X-linked severe congenital neutropenia; Thrombocytopenia 1; Wiskott-Aldrich syndrome 2024-06-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001517040 SCV005682622 likely benign X-linked severe congenital neutropenia; Thrombocytopenia 1; Wiskott-Aldrich syndrome 2024-01-14 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.