ClinVar Miner

Submissions for variant NM_020630.5(RET):c.[1901G>A;2121T>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 RCV000664379 SCV000788308 pathogenic Multiple endocrine neoplasia, type 2a 2018-05-04 no assertion criteria provided literature only p.D707E mutation was found in cis with p.C634Y variant, genotype c.[1901G>A;2121T>A]. Single large Chinese family report, 33 have both sequence changes: 11 had MTC (range 14-65 yr), 4 had Pheo (median age 37 yr). For reports of p.D707E alone, see c.2121T>A.

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