ClinVar Miner

Submissions for variant NM_014629.4(ARHGEF10):c.1113C>T (p.Phe371=)

gnomAD frequency: 0.04733  dbSNP: rs34655804
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757007 SCV000885028 benign Autosomal dominant slowed nerve conduction velocity 2023-11-22 criteria provided, single submitter clinical testing
GeneDx RCV001655591 SCV001863245 benign not provided 2021-05-04 criteria provided, single submitter clinical testing
Invitae RCV001655591 SCV002371721 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003928259 SCV004744528 benign ARHGEF10-related condition 2019-03-21 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).

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