ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.630G>A (p.Ala210=)

gnomAD frequency: 0.00001  dbSNP: rs781763211
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001471922 SCV001676045 likely benign Developmental and epileptic encephalopathy, 9 2024-08-06 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001819029 SCV002064952 likely benign not specified 2017-07-27 criteria provided, single submitter clinical testing

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