ClinVar Miner

Submissions for variant NM_020975.6(RET):c.1161C>T (p.Gly387=)

dbSNP: rs763967472
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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 RCV000545378 SCV000658392 likely benign Multiple endocrine neoplasia, type 2 2025-01-22 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002256397 SCV002529916 likely benign Hereditary cancer-predisposing syndrome 2021-08-09 criteria provided, single submitter curation
All of Us Research Program, National Institutes of Health RCV000545378 SCV004827068 likely benign Multiple endocrine neoplasia, type 2 2023-10-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002256397 SCV005028221 likely benign Hereditary cancer-predisposing syndrome 2024-02-25 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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