ClinVar Miner

Submissions for variant NM_012414.4(RAB3GAP2):c.4060A>G (p.Ile1354Val)

gnomAD frequency: 0.00174  dbSNP: rs59190330
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192933 SCV000248640 uncertain significance not specified 2014-12-22 criteria provided, single submitter clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000192933 SCV000297233 benign not specified 2015-11-04 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000192933 SCV000339405 likely benign not specified 2016-02-17 criteria provided, single submitter clinical testing
GeneDx RCV001721259 SCV000565456 likely benign not provided 2021-06-08 criteria provided, single submitter clinical testing
Invitae RCV000638451 SCV000759974 likely benign Martsolf syndrome; Warburg micro syndrome 2 2024-01-22 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001096880 SCV001253125 likely benign Martsolf syndrome 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.
Illumina Laboratory Services, Illumina RCV001096881 SCV001253126 likely benign Warburg micro syndrome 2 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.
CeGaT Center for Human Genetics Tuebingen RCV001721259 SCV002544368 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing RAB3GAP2: BP4

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