ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.1434C>T (p.Arg478=)

gnomAD frequency: 0.00001  dbSNP: rs137962077
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001088897 SCV000559654 likely benign Developmental and epileptic encephalopathy, 9 2025-01-27 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000595293 SCV000702780 uncertain significance not provided 2016-11-03 criteria provided, single submitter clinical testing
GeneDx RCV000595293 SCV001865768 likely benign not provided 2019-01-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000595293 SCV005075602 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing PCDH19: BP4, BP7, BS2

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