ClinVar Miner

Submissions for variant NM_014629.4(ARHGEF10):c.1343A>G (p.Glu448Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001330526 SCV001522233 uncertain significance Slowed nerve conduction velocity, autosomal dominant 2019-05-30 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. Although defects in ARHGEF10 have not been fully established to be linked with diseases, reports have associated variants in this gene with chemotherapy induced peripheral neuropathy [PMID: 25164601] and Charcot-Marie-Tooth disease [PMID: 25025039,29653320]

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