ClinVar Miner

Submissions for variant NM_002890.3(RASA1):c.296C>T (p.Ala99Val) (rs111840875)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000199589 SCV000250640 benign not specified 2015-04-17 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000199589 SCV000338935 benign not specified 2016-01-12 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000279612 SCV000458947 likely benign Parkes Weber syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000351057 SCV000458948 likely benign Capillary malformation-arteriovenous malformation 1 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001083983 SCV000562857 benign Capillary malformation-arteriovenous malformation 2020-12-03 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000199589 SCV000605003 benign not specified 2018-07-22 criteria provided, single submitter clinical testing
Clinical Genetics,Academic Medical Center RCV000199589 SCV001922811 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000199589 SCV001951662 benign not specified 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.