ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.3886T>A (p.Leu1296Met)

dbSNP: rs375896308
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000636357 SCV000757796 likely benign Early infantile epileptic encephalopathy with suppression bursts 2023-12-11 criteria provided, single submitter clinical testing
Robert's Program, Boston Children's Hospital RCV001788307 SCV002030058 uncertain significance SUDDEN INFANT DEATH SYNDROME 2021-10-01 criteria provided, single submitter research We classify this variant as a variant of uncertain significance using ACMG/AMP criteria. As this variant has functional evidence supporting pathogenicty, we suspect this variant is favoring pathogenic.

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