ClinVar Miner

Submissions for variant NM_006565.4(CTCF):c.1927C>T (p.Pro643Ser) (rs145727304)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000193895 SCV000247133 benign not specified 2016-02-17 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000427860 SCV000511014 likely benign not provided 2016-11-07 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000193895 SCV000706245 likely benign not specified 2017-03-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716543 SCV000847384 benign History of neurodevelopmental disorder 2019-03-17 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 RCV000427860 SCV001096543 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000989613 SCV001140120 likely benign Mental retardation, autosomal dominant 21 2019-05-28 criteria provided, single submitter clinical testing

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