ClinVar Miner

Submissions for variant NM_020975.4:c.[1902C>G];[1946C>T]

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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 RCV000664370 SCV000788296 pathogenic Multiple endocrine neoplasia, type 2a 2018-05-04 no assertion criteria provided literature only p.S649L was found in trans with a de novo p.C634W in a single MEN2A patient (MTC at 29 yr), genotype c.[1902C>G];[1946C>T]. Four family members had p.S649L only: 3 C-cell hyperplasia (64, 44, 20yr), 1 asymptomatic (60yr). For reports of p.S649L alone, see c.1946C>T.

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