ClinVar Miner

Submissions for variant NM_001372044.2(SHANK3):c.4441C>G (p.Leu1481Val)

gnomAD frequency: 0.00009  dbSNP: rs201973139
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
CeGaT Center for Human Genetics Tuebingen RCV001356145 SCV004155341 uncertain significance not provided 2022-11-01 criteria provided, single submitter clinical testing SHANK3: PP2, BP4
Genetics Laboratory, Facudade de Medicina de Sao Jose do Rio Preto RCV000590957 SCV000598580 uncertain significance Autism 2016-01-01 no assertion criteria provided research
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001356145 SCV001551220 uncertain significance not provided 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.