Submissions for variant NM_012233.3(RAB3GAP1):c.1793A>G (p.Asn598Ser)

gnomAD frequency: 0.14088  dbSNP: rs10445686

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000118091	SCV000311884	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000615374	SCV000416397	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Athena Diagnostics	RCV000712888	SCV000843439	benign	not provided	2018-05-07	criteria provided, single submitter	clinical testing
GeneDx	RCV000712888	SCV001945683	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001795175	SCV002033386	benign	Martsolf syndrome 2	2021-11-07	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000615374	SCV002033387	benign	Warburg micro syndrome 1	2021-11-07	criteria provided, single submitter	clinical testing
Invitae	RCV000712888	SCV002400840	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000118091	SCV000152423	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000615374	SCV000734141	benign	Warburg micro syndrome 1		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000118091	SCV001958771	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000118091	SCV001967122	benign	not specified		no assertion criteria provided	clinical testing