ClinVar Miner

Submissions for variant NM_014491.4(FOXP2):c.1770-4dup (rs398005923)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000153272 SCV000202748 benign not specified 2013-12-26 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000263695 SCV000466346 uncertain significance Speech-language disorder 1 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715354 SCV000846183 benign History of neurodevelopmental disorder 2018-04-16 criteria provided, single submitter clinical testing Intronic alteration with no splicing impact by rt-pcr analysis or other splicing assay;General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance

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