ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.*7G>A

gnomAD frequency: 0.00007  dbSNP: rs765016970
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001703563 SCV000516881 likely benign not provided 2019-12-30 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001121428 SCV001280038 uncertain significance Tuberous sclerosis syndrome 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Genome-Nilou Lab RCV001797717 SCV002040307 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004530563 SCV004710481 likely benign TSC2-related disorder 2020-08-24 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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