ClinVar Miner

Submissions for variant NM_014629.4(ARHGEF10):c.2143+13T>G

gnomAD frequency: 0.28589  dbSNP: rs2294041
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001712715 SCV001943841 benign not provided 2021-05-10 criteria provided, single submitter clinical testing
Invitae RCV001712715 SCV002408037 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000603344 SCV000734600 benign Autosomal dominant slowed nerve conduction velocity no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001701119 SCV001923891 benign not specified no assertion criteria provided clinical testing

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