ClinVar Miner

Submissions for variant NM_020975.4(RET):c.[2753T>C;2765C>A]

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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 RCV000664396 SCV000788326 pathogenic Multiple endocrine neoplasia, type 2b 2018-05-04 no assertion criteria provided literature only p.S922Y was found in cis with p.M918T mutation in an MEN2B patient, genotype c.[2753T>C;2765C>A]. Three other family members with p.S922Y only were asymptomatic.

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