ClinVar Miner

Submissions for variant NM_020975.4(RET):c.[2410G>A;2413G>A]

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Research and Development, ARUP Laboratories RCV000664389 SCV000788318 pathogenic Multiple endocrine neoplasia, type 2b 2018-05-04 no assertion criteria provided literature only p.E805K was found in cis with p.V804M mutation in an MEN2B patient, genotype c.[2410G>A;2413G>A]. Metastatic MTC at 50 yr. No reports of p.E805K alone.

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