ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.2976G>A (p.Ala992=)

gnomAD frequency: 0.00005  dbSNP: rs772345040
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000939839 SCV001085691 likely benign Developmental and epileptic encephalopathy, 9 2023-06-07 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702861 SCV001928056 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001702861 SCV001970582 likely benign not provided no assertion criteria provided clinical testing

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