ClinVar Miner

Submissions for variant NM_014629.4(ARHGEF10):c.387A>G (p.Val129=)

gnomAD frequency: 0.05521  dbSNP: rs749822
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001683610 SCV001897613 benign not provided 2021-05-04 criteria provided, single submitter clinical testing
Invitae RCV001683610 SCV002340738 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000602920 SCV000734597 benign Autosomal dominant slowed nerve conduction velocity no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001701398 SCV001925557 benign not specified no assertion criteria provided clinical testing

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