ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.5351T>C (p.Val1784Ala) (rs1057518671)

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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 RCV000414903 SCV000328748 likely pathogenic Severe myoclonic epilepsy in infancy 2016-05-01 no assertion criteria provided clinical testing Our laboratory reported two molecular diagnoses, in SCN1A (NM_001165963.1:c.5351T>C) and a 16p11.3 deletion, in an individual with multiple congenital contractures, neonatal seizures, abnormal movements, bilateral club foot, edema, scoliosis, and a clinical diagnosis of fetal akinesia sequence.

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