ClinVar Miner

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

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Total submissions: 3
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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
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625166 SCV000745418 benign Slowed nerve conduction velocity, autosomal dominant 2015-01-15 criteria provided, single submitter clinical testing

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