ClinVar Miner

Submissions for variant NM_020975.4(RET):c.[1900T>C;1919C>G;2098A>T]

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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 RCV000664364 SCV000788290 pathogenic Multiple endocrine neoplasia, type 2a 2018-05-04 no assertion criteria provided literature only p.A640G was found with p.M700L and also with known mutation p.C634R in an MEN2A patient, genotype c.[1900T>C;1919C>G;2098A>T]: MTC (26 yr) and Pheo. Daughter inherited no RET changes, so these three variants are likely in cis. Original report on patient where initially only p.C634R and p.A640G were found: PMID 10522989. No reports of p.A640G or p.M700L found alone.

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