ClinVar Miner

Submissions for variant NM_020975.6(RET):c.1644C>G (p.Gly548=)

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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 RCV002403595 SCV002709249 likely benign Hereditary cancer-predisposing syndrome 2020-01-24 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003097049 SCV003280324 likely benign Multiple endocrine neoplasia, type 2 2022-06-07 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003097049 SCV004817395 likely benign Multiple endocrine neoplasia, type 2 2023-03-09 criteria provided, single submitter clinical testing

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