ClinVar Miner

Submissions for variant NM_020975.6(RET):c.1857_1858delinsTC (p.Cys620Arg) (rs1554818784)

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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 RCV000664349 SCV000788275 pathogenic Multiple endocrine neoplasia, type 2a 2018-05-04 no assertion criteria provided literature only Single Dutch family, 3 have indel mutation: 1 MTC (28 yr) and Pheo, 1 HSCR. Genotype c.1857_1858delinsTC results in a silent change at codon 619 and a missense change at 620 (p.C620R). In the oldest reference, c.1858 was called 2052. Additional reference: PMID 9824583.

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