ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.126_128delinsCC (p.Lys42fs)

dbSNP: rs2105983330
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001527643 SCV001738755 pathogenic Developmental and epileptic encephalopathy, 1 2020-01-01 no assertion criteria provided clinical testing

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