ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.2626-6_2626-4del

dbSNP: rs5901000
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000537076 SCV000641586 benign not provided 2017-08-04 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002256368 SCV002528886 benign Hereditary cancer-predisposing syndrome 2021-05-20 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV002483423 SCV002796044 likely benign Lymphangiomyomatosis; Tuberous sclerosis 1; Isolated focal cortical dysplasia type II 2021-10-27 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003999207 SCV004833010 uncertain significance Tuberous sclerosis syndrome 2023-10-02 criteria provided, single submitter clinical testing This variant causes a deletion of four nucleotides at the -4 position in intron 20 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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