ClinVar Miner

Submissions for variant NM_020975.4(RET):c.[2342A>G;2410G>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 RCV000664384 SCV000788313 pathogenic Multiple endocrine neoplasia, type 2b 2018-05-04 no assertion criteria provided literature only p.Q781R was found in cis with p.V804M mutation, genotype c.[2342A>G;2410G>A]. Single family report, 1 has both sequence changes (p.V804M was de novo): MTC at 32 yr, mucosal nodules, and diagnosed as MEN2B. Two others have only the p.Q781R change only: asymptomatic (64 and 31 yr). For more reports of p.Q781R alone, see c.2342A>G.

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