ClinVar Miner

Submissions for variant NM_002180.2(IGHMBP2):c.912+3A>G (rs1555244128)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522750 SCV000621788 uncertain significance not provided 2017-10-30 criteria provided, single submitter clinical testing The c.912+3A>G variant in the IGHMBP2 gene has not been reported previously as a pathogenic variant nor as abenign variant, to our knowledge. In silico analyses, including splice predictors and evolutionary conservation, are inconsistent in their assessment as to whether or not this variant is damaging. The c.912+3A>G variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.912+3A>G as a variant of uncertain significance.

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