ClinVar Miner

Submissions for variant NM_014629.4(ARHGEF10):c.1812C>A (p.Tyr604Ter)

dbSNP: rs1332591469
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV001002797 SCV001160770 uncertain significance Autosomal dominant slowed nerve conduction velocity 2019-09-12 criteria provided, single submitter clinical testing

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