ClinVar Miner

Submissions for variant NM_020975.6(RET):c.1831T>C (p.Cys611Arg) (rs377767391)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Research and Development, ARUP Laboratories RCV000021782 SCV000042448 pathogenic Multiple endocrine neoplasia, type 2 2018-05-04 no assertion criteria provided literature only Reported as causative of MEN2, limited patient/clinical information. Patients may also have HSCR (PMID 11694544). Single individual report: bilateral Pheo at 57 yr (PMID 19029228). Additional references: PMID 12686527 and 9068588.
Human Genomics Unit,Institute for molecular medicine Finland (FIMM) RCV000736275 SCV000864572 likely pathogenic Hirschsprung disease 2013-01-01 no assertion criteria provided research

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