ClinVar Miner

Submissions for variant NM_020975.6(RET):c.1901G>C (p.Cys634Ser) (rs75996173)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000014926 SCV000035182 pathogenic Multiple endocrine neoplasia, type 2a 2002-05-09 no assertion criteria provided literature only
OMIM RCV000014927 SCV000035183 pathogenic Pheochromocytoma 2002-05-09 no assertion criteria provided literature only
Research and Development, ARUP Laboratories RCV000021824 SCV000042490 pathogenic Multiple endocrine neoplasia, type 2 2018-05-04 no assertion criteria provided literature only MEN2A or FMTC families. Youngest with MTC: 9 yr (PMID 25143909). Youngest with Pheo: 19 yr (PMID 28099363). In the oldest reference, codon 634 was called codon 380. Additional references: PMID 15277225, 8640806, 18062802 and 7874109. Has been found with another RET change, see c.[1901G>C;1921G>T].

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