ClinVar Miner

Submissions for variant NM_020975.6(RET):c.1892_1903dup (p.Arg635_Thr636insHisGluLeuCys) (rs377767436)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000014955 SCV000035211 pathogenic MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITHOUT PHEOCHROMOCYTOMA 1997-04-01 no assertion criteria provided literature only
Research and Development, ARUP Laboratories RCV000021829 SCV000055369 pathogenic Multiple endocrine neoplasia, type 2a 2018-05-04 no assertion criteria provided literature only Single family report, 14 have the mutation genotype: 12 MTC, 10 HPT, no Pheos. 12 bp duplication of codons 631-634. In vitro studies: RET activation (PMID 10918602).

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