ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.1439-10T>A

gnomAD frequency: 0.00001  dbSNP: rs1060504852
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000467353 SCV000562463 likely benign Tuberous sclerosis 1 2023-11-03 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004002185 SCV004841821 uncertain significance Tuberous sclerosis syndrome 2023-11-20 criteria provided, single submitter clinical testing This variant causes a T to A nucleotide substitution at the -10 position of intron 14 of the TSC1 gene. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with TSC1-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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