ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.432del (p.Phe144fs) (rs1064793613)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481480 SCV000566604 pathogenic not provided 2015-05-19 criteria provided, single submitter clinical testing The c.432delC deletion is predicted to cause loss of normal protein function either through protein truncation ornonsense-mediated mRNA decay. Although this variant has not been previously reportedto our knowledge, we consider it to be pathogenic.

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