ClinVar Miner

Submissions for variant NM_001172509.2(SATB2):c.195C>T (p.Val65=)

gnomAD frequency: 0.00065  dbSNP: rs147613731
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000537536 SCV000646938 benign Chromosome 2q32-q33 deletion syndrome 2024-12-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002314999 SCV000848136 benign Inborn genetic diseases 2016-11-01 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV001724054 SCV001949612 benign not provided 2020-10-09 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821560 SCV002071150 benign not specified 2019-08-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001724054 SCV005237974 benign not provided criteria provided, single submitter not provided

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.