ClinVar Miner

Submissions for variant NM_020975.6(RET):c.1523-12T>G

dbSNP: rs1429462039
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000605552 SCV000732582 likely benign not specified 2017-06-09 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
All of Us Research Program, National Institutes of Health RCV004002634 SCV004839490 uncertain significance Multiple endocrine neoplasia, type 2 2023-11-02 criteria provided, single submitter clinical testing This variant causes a T to G nucleotide substitution at the -12 position of intron 7 of the RET gene. 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 not been identified 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV004002634 SCV005766036 likely benign Multiple endocrine neoplasia, type 2 2024-07-30 criteria provided, single submitter clinical testing

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