ClinVar Miner

Submissions for variant NM_004840.3(ARHGEF6):c.2007C>T (p.Ser669=) (rs12008084)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000361042 SCV000481788 benign Non-syndromic X-linked intellectual disability 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000720975 SCV000851859 benign History of neurodevelopmental disorder 2014-12-13 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Invitae RCV000870688 SCV001012217 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000116414 SCV000150338 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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