ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.2425del (p.Gln809fs)

dbSNP: rs1057518662
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000414826 SCV000328735 pathogenic Developmental and epileptic encephalopathy, 7 2016-05-01 no assertion criteria provided clinical testing Our laboratory reported two molecular diagnoses in KCNQ2 (NM_172108.4, c.2332delC) and PRRT2 (NM_145239.2, c.649dup) in an individual with Ohtahara syndrome, severe developmental delay, seizure disorder, structural brain anomalies and eye anomalies, severe hypotonia, bilateral hearing loss, and dysmorphic features.

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