ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.104T>A (p.Leu35Gln)

gnomAD frequency: 0.00001  dbSNP: rs1235525082
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001751511 SCV001986735 uncertain significance not provided 2021-02-16 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
GenomeConnect, ClinGen RCV001249329 SCV001423295 not provided Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 10-23-2018 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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