ClinVar Miner

Submissions for variant NM_006920.6(SCN1A):c.3497C>G (p.Pro1166Arg) (rs752060724)

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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 RCV000624256 SCV000742524 uncertain significance Inborn genetic diseases 2017-07-18 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: UNCERTAIN: Alteration(s) of Uncertain Clinical Significance Detected
Ambry Genetics RCV000720801 SCV000851685 uncertain significance History of neurodevelopmental disorder 2017-05-17 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence

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