ClinVar Miner

Submissions for variant NM_020975.6(RET):c.1833C>G (p.Cys611Trp) (rs80069458)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000014932 SCV000035188 pathogenic Multiple endocrine neoplasia, type 2a 1994-01-01 no assertion criteria provided literature only
Research and Development, ARUP Laboratories RCV000021788 SCV000042454 pathogenic Multiple endocrine neoplasia, type 2 2018-05-04 no assertion criteria provided literature only MEN2A or FMTC families. Youngest with MTC: 14 yr. In vitro studies: PMID 9230192. In the oldest reference, exon 10 was called exon 7. Additional references: PMID 20979234, 14739494, 11502806, and 7916559.

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