ClinVar Miner

Submissions for variant NM_020975.6(RET):c.1513_1518del (p.Glu505_Gly506del) (rs1554818555)

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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 RCV000664338 SCV000788262 pathogenic Multiple endocrine neoplasia, type 2a 2018-05-04 no assertion criteria provided literature only Single family report of de novo mutation, one with mutation genotype: MTC (37 yr) and bilateral Pheo (31 yr). Mutation is an inframe deletion. Genotype was c.1512_1517delGGAGGG in the reference. In vitro studies indicated an activating mutation.

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