ClinVar Miner

Submissions for variant NM_020975.6(RET):c.1095G>A (p.Ser365=)

gnomAD frequency: 0.00002  dbSNP: rs201992974
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000123289 SCV000166596 likely benign Multiple endocrine neoplasia, type 2 2024-01-04 criteria provided, single submitter clinical testing
Counsyl RCV000410870 SCV000489745 likely benign Multiple endocrine neoplasia type 2B 2015-12-11 criteria provided, single submitter clinical testing
Counsyl RCV000412429 SCV000489746 likely benign Multiple endocrine neoplasia type 2A 2015-12-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV000570175 SCV000674893 likely benign Hereditary cancer-predisposing syndrome 2017-02-06 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.
All of Us Research Program, National Institutes of Health RCV000123289 SCV004831931 uncertain significance Multiple endocrine neoplasia, type 2 2023-11-30 criteria provided, single submitter clinical testing This variant is located in the RET protein. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with RET-related disorders in the literature. This variant has been identified in 6/250648 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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