ClinVar Miner

Submissions for variant NM_020975.6(RET):c.1825T>G (p.Cys609Gly) (rs77558292)

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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 RCV000021777 SCV000042443 pathogenic Multiple endocrine neoplasia, type 2a 2018-05-04 no assertion criteria provided literature only Three family reports, 6 have the mutation genotype: 5 MTC and 4 Pheo (PMID 20979234). Youngest with MTC: 4 yr. Additional references: PMID 12037758, 18063059 and 15326638.

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