ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.2617-7A>G

gnomAD frequency: 0.00035  dbSNP: rs370859689
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000281327 SCV000341341 uncertain significance not provided 2016-05-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001082416 SCV001009689 benign Developmental and epileptic encephalopathy, 9 2025-01-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000281327 SCV004010952 likely benign not provided 2025-02-01 criteria provided, single submitter clinical testing PCDH19: BP4, BS2

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