ClinVar Miner

Submissions for variant NM_020975.6(RET):c.1233C>T (p.Ser411=)

gnomAD frequency: 0.00001  dbSNP: rs779374978
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001455460 SCV001659220 likely benign Multiple endocrine neoplasia, type 2 2023-08-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002377756 SCV002667474 likely benign Hereditary cancer-predisposing syndrome 2022-07-02 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.

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