ClinVar Miner

Submissions for variant NM_014629.4(ARHGEF10):c.2460C>G (p.Asn820Lys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001196158 SCV001366679 uncertain significance Slowed nerve conduction velocity, autosomal dominant 2019-06-10 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting.

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