ClinVar Miner

Submissions for variant NM_020975.6(RET):c.2079C>G (p.Arg693=)

gnomAD frequency: 0.00001  dbSNP: rs747166722
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000567163 SCV000674747 likely benign Hereditary cancer-predisposing syndrome 2015-11-01 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 RCV000654642 SCV000776536 likely benign Multiple endocrine neoplasia, type 2 2025-02-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004543269 SCV004780056 likely benign RET-related disorder 2019-03-20 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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