ClinVar Miner

Submissions for variant NM_020975.4(RET):c.[1859G>T;2372A>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 RCV000664350 SCV000788276 pathogenic Multiple endocrine neoplasia, type 2a 2018-05-04 no assertion criteria provided literature only p.C620F mutation was found in cis with p.Y791F variant in a Czech MEN2A family, genotype c.[1859G>T;2372A>T]. 58 yr old had metastatic MTC. Additional reference: PMID 19826964. For reports of p.C620F alone, see c.1859G>T.

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