ClinVar Miner

Submissions for variant NM_001083961.2(WDR62):c.1531G>A (p.Asp511Asn) (rs387907083)

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
Centogene AG - the Rare Disease Company RCV001250231 SCV001424512 pathogenic Primary microcephaly type 2 criteria provided, single submitter clinical testing
OMIM RCV000024031 SCV000045322 pathogenic Primary autosomal recessive microcephaly 2 2010-11-01 no assertion criteria provided literature only
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire,Universite Libre de Bruxelles RCV000024031 SCV001481954 likely pathogenic Primary autosomal recessive microcephaly 2 2020-01-01 no assertion criteria provided 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.