ClinVar Miner

Submissions for variant NM_012233.3(RAB3GAP1):c.669G>T (p.Leu223Phe)

gnomAD frequency: 0.00770  dbSNP: rs76927619
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000118098 SCV000152430 benign not specified 2016-02-26 criteria provided, single submitter clinical testing
GeneDx RCV000118098 SCV000528061 benign not specified 2016-08-16 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.
Athena Diagnostics Inc RCV000712893 SCV000843444 benign not provided 2018-05-14 criteria provided, single submitter clinical testing
Invitae RCV000712893 SCV001020663 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001132406 SCV001292065 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.
CeGaT Center for Human Genetics Tuebingen RCV000712893 SCV004149214 benign not provided 2022-11-01 criteria provided, single submitter clinical testing RAB3GAP1: BS1, BS2

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