ClinVar Miner

Submissions for variant NM_014629.4(ARHGEF10):c.2134G>T (p.Ala712Ser)

dbSNP: rs1057523214
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000421442 SCV000531082 likely benign not specified 2016-09-01 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Baylor Genetics RCV001330527 SCV001522234 uncertain significance Autosomal dominant slowed nerve conduction velocity 2020-02-27 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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