ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.590del (p.Gly197fs) (rs863223526)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000196580 SCV000250065 pathogenic not provided 2011-06-11 criteria provided, single submitter clinical testing This mutation is denoted c.590delG at the cDNA level or at the protein level as p.Gly197AspfsX126. This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. This variant was found in ELN

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