ClinVar Miner

Submissions for variant NM_012414.4(RAB3GAP2):c.2008C>G (p.Leu670Val)

gnomAD frequency: 0.00002  dbSNP: rs201613456
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193412 SCV000248635 uncertain significance not specified 2014-12-05 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000393027 SCV000354483 benign Martsolf syndrome 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.
Illumina Laboratory Services, Illumina RCV000299268 SCV000354484 benign Warburg micro syndrome 2 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 RCV001705085 SCV000524184 likely benign not provided 2019-11-22 criteria provided, single submitter clinical testing
Invitae RCV000877111 SCV001019792 benign Martsolf syndrome; Warburg micro syndrome 2 2023-11-15 criteria provided, single submitter clinical testing

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