ClinVar Miner

Submissions for variant NM_001008537.3(NEXMIF):c.2605T>C (p.Ser869Pro) (rs1216179072)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000720286 SCV000851163 uncertain significance History of neurodevelopmental disorder 2016-08-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System RCV000678324 SCV000804385 uncertain significance Mental retardation, X-linked 98 2017-06-02 criteria provided, single submitter provider interpretation This variant was identified in a 3 year old male with autism spectrum disorder, developmental delays, sleep problems, and pica. This missense variant is absent from the gnomAD database and computational prediction models are inconsistent. This variant has not been reported previously in the literature, to our knowledge. This gene is not constrained for missense variation and missense variants have not been widely reported as disease-causing for this gene.

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