ClinVar Miner

Submissions for variant NM_020975.6(RET):c.648C>T (p.Cys216=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
All of Us Research Program, National Institutes of Health RCV004807846 SCV005430301 likely benign Multiple endocrine neoplasia, type 2 2024-04-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV004951854 SCV005491062 likely benign Hereditary cancer-predisposing syndrome 2024-09-16 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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