ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.889+1G>A

dbSNP: rs782238674
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000479896 SCV000564966 likely pathogenic not provided 2020-12-09 criteria provided, single submitter clinical testing Canonical splice site variant expected to result in aberrant splicing, although in the absence of functional evidence the actual effect of this sequence change is unknown.; Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge

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