ClinVar Miner

Submissions for variant NM_020975.6(RET):c.2029C>A (p.Arg677=)

dbSNP: rs1432069386
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sema4, Sema4 RCV002256977 SCV002529961 likely benign Hereditary cancer-predisposing syndrome 2022-02-14 criteria provided, single submitter curation
Ambry Genetics RCV002256977 SCV002720449 likely benign Hereditary cancer-predisposing syndrome 2020-01-21 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 RCV003101403 SCV003484543 likely benign Multiple endocrine neoplasia, type 2 2023-08-01 criteria provided, single submitter clinical testing

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