ClinVar Miner

Submissions for variant NM_020975.6(RET):c.2121T>A (p.Asp707Glu) (rs1554818959)

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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 RCV000664378 SCV000788307 pathogenic Multiple endocrine neoplasia, type 2a 2018-05-04 no assertion criteria provided literature only Single large Chinese family report, 15 with mutation: 8 MTC only (18-50 yr), 5 MTC and Pheo (26-50yr). Has has been found in cis with another RET change, see c.[1901G>A; 2121T>A].

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