ClinVar Miner

Submissions for variant NM_020975.6(RET):c.1013C>T (p.Thr338Ile) (rs377767433)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000570795 SCV000664515 likely benign Hereditary cancer-predisposing syndrome 2016-09-26 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Intact protein function observed in appropriate functional assay(s)
Mendelics RCV000709106 SCV000838375 uncertain significance Multiple endocrine neoplasia, type 2a 2018-07-02 criteria provided, single submitter clinical testing
Research and Development, ARUP Laboratories RCV000032026 SCV000055358 uncertain significance not specified 2018-05-04 no assertion criteria provided literature only First report, single individual: HSCR. Second report, single family, two with mutation genotype: 1 MTC only (PMID 21810974). Third report, single individual: MTC (PMID 21054478). Additional reference: PMID 20516206. In vitro studies: PMID 21810974 and 25440022

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