ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.2455-6T>A

dbSNP: rs2105192046
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001764121 SCV002000428 uncertain significance not provided 2021-04-21 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001885062 SCV002120707 likely benign Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2024-02-17 criteria provided, single submitter clinical testing

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