ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.1627C>T (p.Leu543=) (rs1953337)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755335 SCV000604613 benign not provided 2017-05-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715042 SCV000845866 benign History of neurodevelopmental disorder 2016-03-02 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000600298 SCV000734797 benign Early infantile epileptic encephalopathy 9 no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079603 SCV000111485 benign not specified 2014-01-08 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000079603 SCV000194420 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
PreventionGenetics RCV000079603 SCV000306976 benign not specified criteria provided, single submitter clinical testing

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