ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.3248-4A>G (rs3779031)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000715068 SCV000845892 benign History of neurodevelopmental disorder 2016-02-22 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000296722 SCV000677260 benign Pitt-Hopkins-like syndrome 1 2017-04-28 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081597 SCV000113528 benign not specified 2014-01-17 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000081597 SCV000150763 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.
Illumina Clinical Services Laboratory,Illumina RCV000296722 SCV000467291 benign Pitt-Hopkins-like syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000351513 SCV000467292 benign Pitt-Hopkins-like syndrome 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000081597 SCV000312072 benign not specified criteria provided, single submitter clinical testing

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