ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.3057G>A (p.Gly1019=)

gnomAD frequency: 0.00001  dbSNP: rs886043091
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000388552 SCV000338389 uncertain significance not provided 2016-01-13 criteria provided, single submitter clinical testing
Invitae RCV002059175 SCV002436511 likely benign Developmental and epileptic encephalopathy, 9 2023-11-06 criteria provided, single submitter clinical testing

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