ClinVar Miner

Submissions for variant NM_020975.4(RET):c.1891G>T(;)2456G>T(;)2529G>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 RCV000664355 SCV000788281 pathogenic Multiple endocrine neoplasia, type 2a 2018-05-04 no assertion criteria provided literature only Single Caucasian MEN2A patient has three sequence changes: p.D631Y, p.S819I, and p.E843D. Genotype c.1891G>T(;)2456G>T(;)2529G>T. Unknown if sequence changes are in cis or in trans. Metastatic MTC at 40 yr. For reports of p.D631Y alone, see c.1891G>T.

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