ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.1142A>G (p.Asn381Ser) (rs1318908420)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ege University Pediatric Genetics,Ege University RCV000790388 SCV000925625 uncertain significance Early infantile epileptic encephalopathy 9 2019-05-15 criteria provided, single submitter clinical testing

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