ClinVar Miner

Submissions for variant NM_020975.6(RET):c.1826G>C (p.Cys609Ser) (rs77939446)

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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 RCV000021779 SCV000042445 pathogenic Multiple endocrine neoplasia, type 2a 2018-05-04 no assertion criteria provided literature only Youngest with MTC: 15 yr. Youngest with Pheo: 19 yr. Two family reports, 18 have the mutation genotype: 14 MTC, 4 Pheo, and 2 HPT (PMID 20979234). In vitro studies: RET activation (PMID 16343103). Additional references: PMID 19475497, 12050290, 18976013 and 15452453.

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