ClinVar Miner

Submissions for variant NM_003070.5(SMARCA2):c.669GCA[10] (p.Gln236_Gln238del)

dbSNP: rs113070757
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 9
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192369 SCV000248945 benign not specified 2019-10-31 criteria provided, single submitter clinical testing
GeneDx RCV001529698 SCV001797278 likely benign not provided 2022-02-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001529698 SCV002468640 likely benign not provided 2024-04-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002517980 SCV003714519 likely benign Inborn genetic diseases 2021-09-02 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
CeGaT Center for Human Genetics Tuebingen RCV001529698 SCV003917642 benign not provided 2024-08-01 criteria provided, single submitter clinical testing SMARCA2: BS1, BS2
Molecular Genetics, Royal Melbourne Hospital RCV003993879 SCV004812831 benign Nicolaides-Baraitser syndrome 2023-06-06 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529698 SCV001743603 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001529698 SCV001797399 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001529698 SCV001975398 likely benign 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.