ClinVar Miner

Submissions for variant NM_001365902.3(NFIX):c.1402+3A>G

dbSNP: rs2145503512
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001776607 SCV002013278 uncertain significance not provided 2021-05-04 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown

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