ClinVar Miner

Submissions for variant NM_014191.4(SCN8A):c.5279T>C (p.Met1760Thr) (rs1555231012)

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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 RCV000622903 SCV000742328 likely pathogenic Inborn genetic diseases 2017-06-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: LIKELY POSITIVE: Relevant Alteration(s) Detected
Ambry Genetics RCV000720900 SCV000851784 likely pathogenic History of neurodevelopmental disorder 2017-06-28 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Rarity in general population databases (dbsnp, esp, 1000 genomes),Structural Evidence,Other strong data supporting pathogenic classification

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