ClinVar Miner

Submissions for variant NM_020975.4(RET):c.[2372A>T;2753T>C]

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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 RCV000664395 SCV000788325 pathogenic Multiple endocrine neoplasia, type 2b 2018-05-04 no assertion criteria provided literature only p.M918T mutation was found in cis with p.Y791F variant in a Czech MEN2B family, genotype c.[2372A>T;2753T>C]. Youngest with MTC: 5 yr. Additional reference: PMID 16705552. For reports of p.M918T alone, see c.2753T>C.

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