ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.1659G>A (p.Ala553=) (rs34592169)

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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 RCV000715086 SCV000845911 benign History of neurodevelopmental disorder 2016-01-08 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000332935 SCV000677257 benign Pitt-Hopkins-like syndrome 1 2017-04-28 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081587 SCV000113518 benign not specified 2012-08-16 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000081587 SCV000150754 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 RCV000332935 SCV000467243 benign Pitt-Hopkins-like syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000389811 SCV000467244 benign Pitt-Hopkins-like syndrome 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000081587 SCV000312063 benign not specified criteria provided, single submitter clinical testing

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