Submissions for variant NM_006420.3(ARFGEF2):c.423+3A>G

gnomAD frequency: 0.00491  dbSNP: rs2295029

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000116405	SCV000150329	benign	not specified	2013-07-05	criteria provided, single submitter	clinical testing
GeneDx	RCV000116405	SCV000167027	benign	not specified	2014-05-23	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.
Eurofins Ntd Llc (ga)	RCV000116405	SCV000202178	benign	not specified	2014-01-06	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000319626	SCV000434262	likely benign	Periventricular heterotopia with microcephaly, autosomal recessive	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Athena Diagnostics	RCV000116405	SCV001476146	benign	not specified	2020-07-16	criteria provided, single submitter	clinical testing
Invitae	RCV002055278	SCV002418651	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing