ClinVar Miner

Submissions for variant NM_006920.6(SCN1A):c.3479C>T (p.Pro1160Leu) (rs1559152754)

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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 RCV000680090 SCV000807530 uncertain significance Severe myoclonic epilepsy in infancy 2017-09-01 criteria provided, single submitter clinical testing Likely pathogenicity based on finding it once in our laboratory de novo in a 9-year-old female with autism, regression, global delays, refractory epilepsy (onset at 2y), dysmorphisms, short stature, joint laxity, scoliosis, hypohydrosis, thin hair, significant myopia

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