ClinVar Miner

Submissions for variant NM_006420.3(ARFGEF2):c.4346A>C (p.Asn1449Thr)

gnomAD frequency: 0.00026  dbSNP: rs200473895
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000981683 SCV001129666 benign not provided 2023-04-11 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000981683 SCV001143054 benign not provided 2019-07-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001140272 SCV001300513 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.
Mayo Clinic Laboratories, Mayo Clinic RCV000981683 SCV001713054 uncertain significance not provided 2019-04-07 criteria provided, single submitter clinical testing
GeneDx RCV000981683 SCV001816808 likely benign not provided 2018-07-10 criteria provided, single submitter clinical testing

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