ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.849-6T>G

gnomAD frequency: 0.00001  dbSNP: rs886038358
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Preventiongenetics, part of Exact Sciences RCV000245598 SCV000305259 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV001049053 SCV001213087 uncertain significance Tuberous sclerosis 2 2024-01-12 criteria provided, single submitter clinical testing This sequence change falls in intron 9 of the TSC2 gene. It does not directly change the encoded amino acid sequence of the TSC2 protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TSC2-related conditions. ClinVar contains an entry for this variant (Variation ID: 256638). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Genome-Nilou Lab RCV001049053 SCV002041104 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing

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