ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.197del (p.Lys66fs)

dbSNP: rs2082235501
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV001194618 SCV001364275 pathogenic Seizures, benign familial neonatal, 1 2020-02-19 no assertion criteria provided clinical testing

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