ClinVar Miner

Submissions for variant NM_006420.3(ARFGEF2):c.3892G>A (p.Gly1298Ser)

gnomAD frequency: 0.00124  dbSNP: rs139037316
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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 RCV000193054 SCV000246471 uncertain significance not specified 2015-01-09 criteria provided, single submitter clinical testing
GeneDx RCV000710613 SCV000524190 likely benign not provided 2021-01-05 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000710613 SCV000840856 uncertain significance not provided 2018-03-05 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000710613 SCV000857699 uncertain significance not provided 2017-11-06 criteria provided, single submitter clinical testing
Invitae RCV000710613 SCV001021408 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001137258 SCV001297183 uncertain significance Periventricular heterotopia with microcephaly, autosomal recessive 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.
PreventionGenetics, part of Exact Sciences RCV003937681 SCV004749153 likely benign ARFGEF2-related disorder 2022-02-10 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).
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001251678 SCV001427418 uncertain significance Intellectual disability 2019-01-01 no assertion criteria provided clinical testing

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