ClinVar Miner

Submissions for variant NM_014629.4(ARHGEF10):c.1110G>C (p.Leu370Phe)

gnomAD frequency: 0.11648  dbSNP: rs9657362
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757006 SCV000885027 benign Autosomal dominant slowed nerve conduction velocity 2023-11-29 criteria provided, single submitter clinical testing
GeneDx RCV001672950 SCV001887391 benign not provided 2021-05-04 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25164601)
Invitae RCV001672950 SCV002419042 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003975302 SCV004797711 benign ARHGEF10-related condition 2019-10-18 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).
Inherited Neuropathy Consortium RCV000789723 SCV000929100 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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