Submissions for variant NM_006420.3(ARFGEF2):c.807C>T (p.Asp269=)

gnomAD frequency: 0.00230  dbSNP: rs149172723

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000116410	SCV000150334	benign	not specified	2013-10-25	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000724361	SCV000231717	uncertain significance	not provided	2014-11-22	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000293314	SCV000434264	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	RCV000116410	SCV000512096	benign	not specified	2015-07-20	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Athena Diagnostics Inc	RCV000724361	SCV000612406	benign	not provided	2018-11-06	criteria provided, single submitter	clinical testing
Invitae	RCV000724361	SCV001015627	benign	not provided	2024-01-25	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000724361	SCV002064050	likely benign	not provided	2023-03-01	criteria provided, single submitter	clinical testing	ARFGEF2: BP4, BP7