ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.4494_4496del (p.Lys1499del) (rs796052785)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188303 SCV000241914 uncertain significance not specified 2012-07-17 criteria provided, single submitter clinical testing The p.Lys1539del has not been published as a mutation nor reported as a benign polymorphism, to our knowledge. Lys1539 is a well conserved position across species but does not lie within any known functional domain. Based on the currently available information, it is unclear whether p.Lys1539del is a disease-causing mutation or a rare benign variant. The variant is found in CHILD-EPI panel(s).

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