ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.783-6T>C (rs138540027)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000420242 SCV000523270 uncertain significance not provided 2017-06-21 criteria provided, single submitter clinical testing The c.783-6 T>C variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.783-6 T>C variant is observed in 106/64806 (0.16%) alleles from individuals of European background, including 1 homozygous individual in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The c.783-6 T>C substitution occurs at a position that is conserved across species. In-silico splice prediction models are inconsistent in their predictions as to whether or not c.783-6 T>C results in abnormal gene splicing, and in the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown. In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV001087843 SCV000646848 benign Encephalopathy, acute, infection-induced, 3, suceptibility to 2020-10-19 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000420242 SCV001798957 likely benign not provided no assertion criteria provided clinical testing

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