ClinVar Miner

Submissions for variant NM_012233.3(RAB3GAP1):c.1006C>T (p.Arg336Cys)

gnomAD frequency: 0.00415  dbSNP: rs150478342
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
Genetic Services Laboratory, University of Chicago RCV000193269 SCV000248629 likely benign not specified 2016-07-20 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224002 SCV000281320 likely benign not provided 2016-01-29 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Illumina Laboratory Services, Illumina RCV000280127 SCV000416388 likely benign Warburg micro syndrome 1 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx RCV000224002 SCV000514335 benign not provided 2020-03-24 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 29924831)
Athena Diagnostics RCV000224002 SCV000614844 benign not provided 2018-06-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000224002 SCV001020828 benign not provided 2024-01-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000224002 SCV002585809 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing RAB3GAP1: BP4, BS2
Yale Center for Mendelian Genomics, Yale University RCV001849339 SCV002106757 uncertain significance Amenorrhea 2021-03-08 no assertion criteria provided literature only

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.