ClinVar Miner

Submissions for variant NM_020975.6(RET):c.1064-9T>G

gnomAD frequency: 0.00001  dbSNP: rs1837849183
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003118330 SCV003784883 likely benign Multiple endocrine neoplasia, type 2 2024-03-21 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003118330 SCV004832313 uncertain significance Multiple endocrine neoplasia, type 2 2023-08-23 criteria provided, single submitter clinical testing This variant causes a T to G nucleotide substitution at the -9 position of intron 5 of the RET gene. Splice site prediction tools are inconclusive regarding the impact of this variant on RNA splicing. To our knowledge, RNA 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.

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