ClinVar Miner

Submissions for variant NM_004840.3(ARHGEF6):c.169T>C (p.Cys57Arg)

gnomAD frequency: 0.00200  dbSNP: rs147131853
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194124 SCV000246483 uncertain significance not specified 2015-05-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV000721042 SCV000851926 likely benign History of neurodevelopmental disorder 2013-05-15 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV000872853 SCV001014736 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000990954 SCV001142025 likely benign Intellectual disability, X-linked 46 2019-05-28 criteria provided, single submitter clinical testing

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