ClinVar Miner

Submissions for variant NM_014629.4(ARHGEF10):c.2098G>A (p.Val700Ile) (rs2294039)

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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 RCV000625166 SCV000602540 benign Slowed nerve conduction velocity, autosomal dominant 2020-06-28 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000625166 SCV000743958 benign Slowed nerve conduction velocity, autosomal dominant 2014-10-09 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000625166 SCV000745418 benign Slowed nerve conduction velocity, autosomal dominant 2015-01-15 criteria provided, single submitter clinical testing
Clinical Genetics,Academic Medical Center RCV001706651 SCV001918821 benign not specified no assertion criteria provided clinical testing

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