Submissions for variant NM_012233.3(RAB3GAP1):c.2265T>C (p.Phe755=)

gnomAD frequency: 0.53257  dbSNP: rs17261772

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000118094	SCV000311885	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000356679	SCV000416401	benign	Warburg micro syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000712890	SCV000843441	benign	not provided	2018-05-07	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000602926	SCV001289363	benign	Warburg micro syndrome 1	2018-01-13	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.
GeneDx	RCV000712890	SCV001753214	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001795176	SCV002033388	benign	Martsolf syndrome 2	2021-11-07	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000602926	SCV002033389	benign	Warburg micro syndrome 1	2021-11-07	criteria provided, single submitter	clinical testing
Invitae	RCV000712890	SCV002468071	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000118094	SCV000152426	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	RCV000602926	SCV000734142	benign	Warburg micro syndrome 1		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000118094	SCV001959304	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000118094	SCV001973301	benign	not specified		no assertion criteria provided	clinical testing