ClinVar Miner

Submissions for variant NM_020975.6(RET):c.1710C>T (p.Cys570=)

gnomAD frequency: 0.00001  dbSNP: rs144015580
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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 RCV001422454 SCV001625004 likely benign Multiple endocrine neoplasia, type 2 2023-11-04 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002259120 SCV002529944 likely benign Hereditary cancer-predisposing syndrome 2021-12-02 criteria provided, single submitter curation
Ambry Genetics RCV002259120 SCV002713529 likely benign Hereditary cancer-predisposing syndrome 2021-05-14 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 RCV001422454 SCV004836900 likely benign Multiple endocrine neoplasia, type 2 2024-01-11 criteria provided, single submitter clinical testing

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