ClinVar Miner

Submissions for variant NM_020975.6(RET):c.1686C>T (p.Thr562=)

gnomAD frequency: 0.00001  dbSNP: rs767502292
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000654612 SCV000776506 likely benign Multiple endocrine neoplasia, type 2 2025-02-04 criteria provided, single submitter clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003237979 SCV002011460 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002397328 SCV002710710 likely benign Hereditary cancer-predisposing syndrome 2020-02-18 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
All of Us Research Program, National Institutes of Health RCV000654612 SCV004832074 likely benign Multiple endocrine neoplasia, type 2 2023-12-13 criteria provided, single submitter clinical testing

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