ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.540G>A (p.Thr180=)

gnomAD frequency: 0.00006  dbSNP: rs368094294
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000602440 SCV000729396 likely benign not specified 2017-06-13 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 RCV001425105 SCV001627718 likely benign Developmental and epileptic encephalopathy, 9 2024-12-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002263831 SCV002546186 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing PCDH19: BP4, BP7

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