ClinVar Miner

Submissions for variant NM_020975.6(RET):c.2397G>C (p.Pro799=)

dbSNP: rs776737136
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000227577 SCV000290545 likely benign Multiple endocrine neoplasia, type 2 2023-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002444921 SCV002732432 likely benign Hereditary cancer-predisposing syndrome 2019-11-03 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 RCV000227577 SCV004832345 likely benign Multiple endocrine neoplasia, type 2 2023-08-28 criteria provided, single submitter clinical testing

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