ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.3018C>T (p.Asp1006=) (rs16983426)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000715144 SCV000845972 benign History of neurodevelopmental disorder 2016-06-27 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712509 SCV000843014 benign not provided 2017-09-27 criteria provided, single submitter clinical testing
GeneDx RCV000147079 SCV000170895 benign not specified 2012-12-19 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago RCV000147079 SCV000194429 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Invitae RCV000464945 SCV000559646 benign Early infantile epileptic encephalopathy 9 2018-01-04 criteria provided, single submitter clinical testing

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