Submissions for variant NM_012233.3(RAB3GAP1):c.2463C>T (p.Phe821=)

gnomAD frequency: 0.00825  dbSNP: rs61748693

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000118095	SCV000152427	benign	not specified	2015-06-24	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000317205	SCV000416403	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.
GeneDx	RCV000118095	SCV000514336	benign	not specified	2015-04-08	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.
Invitae	RCV000877996	SCV001020829	benign	not provided	2024-01-22	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000118095	SCV001476802	benign	not specified	2020-07-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000877996	SCV004033760	benign	not provided	2024-06-01	criteria provided, single submitter	clinical testing	RAB3GAP1: BP4, BP7, BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV004542847	SCV004786167	likely benign	RAB3GAP1-related disorder	2019-06-25	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).