ClinVar Miner

Submissions for variant NM_004840.3(ARHGEF6):c.891G>T (p.Gln297His) (rs5974620)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000513689 SCV000611046 likely benign not provided 2017-04-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000721056 SCV000851941 benign History of neurodevelopmental disorder 2015-07-12 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 RCV000513689 SCV001013758 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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