ClinVar Miner

Submissions for variant NM_020975.4(RET):c.[2410G>A;2711C>G]

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000014972 SCV000035228 pathogenic Multiple endocrine neoplasia, type 2b 2002-01-01 no assertion criteria provided literature only
Research and Development, ARUP Laboratories RCV000014972 SCV000788324 pathogenic Multiple endocrine neoplasia, type 2b 2018-05-04 no assertion criteria provided literature only p.S904C was found in cis with p.V804M mutation, genotype c.[2410G>A;2711C>G]. Phenotype described as atypical MEN2B. Single family report, 5 have both sequence changes: 2 MTC, 1 HPT (uncharacteristic for MEN2B), and mucosal neurilemmomas (characteristic for MEN2B). Youngest with MTC: 18 yr. No reports of p.S904C alone.

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