ClinVar Miner

Submissions for variant NM_020975.6(RET):c.2226G>A (p.Thr742=)

gnomAD frequency: 0.00002  dbSNP: rs762876946
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001083002 SCV000261107 benign Multiple endocrine neoplasia, type 2 2024-11-24 criteria provided, single submitter clinical testing
Counsyl RCV000411512 SCV000489791 likely benign Multiple endocrine neoplasia type 2B 2016-03-02 criteria provided, single submitter clinical testing
Counsyl RCV000409060 SCV000489792 likely benign Multiple endocrine neoplasia type 2A 2016-03-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000575112 SCV000674774 likely benign Hereditary cancer-predisposing syndrome 2017-08-04 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.
Athena Diagnostics RCV000205202 SCV001144499 benign not provided 2018-09-27 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000575112 SCV002529966 likely benign Hereditary cancer-predisposing syndrome 2021-05-10 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000205202 SCV004220041 benign not provided 2018-09-27 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001083002 SCV004815192 likely benign Multiple endocrine neoplasia, type 2 2023-12-18 criteria provided, single submitter clinical testing

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