ClinVar Miner

Submissions for variant NM_012414.4(RAB3GAP2):c.2290C>T (p.Leu764Phe) (rs139337049)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224837 SCV000281452 uncertain significance not provided 2016-01-21 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Illumina Clinical Services Laboratory,Illumina RCV000283527 SCV000354475 uncertain significance 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Illumina Clinical Services Laboratory,Illumina RCV000347930 SCV000354476 uncertain significance Cataract-intellectual disability-hypogonadism 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Genetic Services Laboratory, University of Chicago RCV000502830 SCV000596664 uncertain significance not specified 2015-11-18 criteria provided, single submitter clinical testing
Invitae RCV000528699 SCV000636686 likely benign Cataract-intellectual disability-hypogonadism syndrome; Warburg micro syndrome 2 2019-12-31 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000528699 SCV000896277 uncertain significance Cataract-intellectual disability-hypogonadism syndrome; Warburg micro syndrome 2 2018-10-31 criteria provided, single submitter clinical testing

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