ClinVar Miner

Submissions for variant NM_020975.6(RET):c.1900_1908dup (p.Cys634_Thr636dup) (rs377767437)

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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 RCV000021831 SCV000055372 pathogenic Multiple endocrine neoplasia, type 2a 2018-05-04 no assertion criteria provided literature only Single individual report: MTC, Pheo, and HPT at 56 yr. 9bp duplication of codons 634-636. In vitro studies: RET activation (PMID 10918602).

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