ClinVar Miner

Submissions for variant NM_006420.3(ARFGEF2):c.1275C>T (p.His425=)

gnomAD frequency: 0.00143  dbSNP: rs117131028
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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 RCV000116391 SCV000150315 benign not specified 2015-04-23 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000310057 SCV000434270 uncertain significance Periventricular heterotopia with microcephaly, autosomal recessive 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, 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.
GeneDx RCV000710611 SCV000521776 benign not provided 2019-01-22 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710611 SCV000840854 benign not provided 2017-09-21 criteria provided, single submitter clinical testing
Invitae RCV000710611 SCV001017970 benign not provided 2024-01-19 criteria provided, single submitter clinical testing

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