ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.1815C>T (p.Tyr605=)

dbSNP: rs1057521256
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000418866 SCV000521913 likely benign not specified 2015-12-08 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001440311 SCV001643217 likely benign Developmental and epileptic encephalopathy, 9 2016-08-03 criteria provided, single submitter clinical testing

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