ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.2149+5G>A (rs773024189)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189228 SCV000242860 uncertain significance not provided 2016-09-29 criteria provided, single submitter clinical testing The c.2149+5 G>A variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. In silico analysis predicts that c.2149+5 G>A may damage the canonical donor and lead to abnormal splicing. However, in the absence of RNA/functional studies the actual effect of the c.2149+5 G>A sequence change is unknown. The variant is found in INFANT-EPI panel(s).

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