ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.3033C>G (p.Thr1011=)

gnomAD frequency: 0.00001  dbSNP: rs1355245225
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001594525 SCV001827926 likely benign not provided 2019-01-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003509678 SCV004367803 likely benign Developmental and epileptic encephalopathy, 9 2024-09-20 criteria provided, single submitter clinical testing

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