ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.4160_4161del (p.Lys1387fs)

dbSNP: rs1135401811
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris RCV000496101 SCV000586779 likely pathogenic Autism Spectrum Disorder with Intellectual Disability 2017-01-06 criteria provided, single submitter clinical testing Autism Spectrum Disorder with mild Intellectual Disability; no seizures or epilepsy

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