ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.1209C>T (p.Ser403=)

gnomAD frequency: 0.00018  dbSNP: rs372006606
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188329 SCV000241941 benign not specified 2014-12-16 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.
Eurofins Ntd Llc (ga) RCV000725436 SCV000336908 uncertain significance not provided 2015-11-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001419261 SCV001621509 likely benign Developmental and epileptic encephalopathy, 9 2024-10-06 criteria provided, single submitter clinical testing

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