ClinVar Miner

Submissions for variant NM_020975.6(RET):c.2393-14C>G

dbSNP: rs144269978
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002071772 SCV002425103 likely benign Multiple endocrine neoplasia, type 2 2024-01-17 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV002071772 SCV004831935 uncertain significance Multiple endocrine neoplasia, type 2 2023-08-15 criteria provided, single submitter clinical testing This variant causes a C to G nucleotide substitution at the -14 position of intron 13 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 been identified in 5/234862 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.
Myriad Genetics, Inc. RCV004793734 SCV005403654 likely benign Multiple endocrine neoplasia type 2A 2024-08-13 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing. This variant has been observed at a population frequency that is significantly greater than expected given the associated disease prevalence and penetrance.

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