Submissions for variant NM_014629.4(ARHGEF10):c.2098G>A (p.Val700Ile)

gnomAD frequency: 0.03098  dbSNP: rs2294039

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000625166	SCV000602540	benign	Autosomal dominant slowed nerve conduction velocity	2023-11-22	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000625166	SCV000743958	benign	Autosomal dominant slowed nerve conduction velocity	2014-10-09	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000625166	SCV000745418	benign	Autosomal dominant slowed nerve conduction velocity	2015-01-15	criteria provided, single submitter	clinical testing
Invitae	RCV002060166	SCV002408868	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003915407	SCV004729947	benign	ARHGEF10-related condition	2019-12-05	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Clinical Genetics, Academic Medical Center	RCV001706651	SCV001918821	benign	not specified		no assertion criteria provided	clinical testing