ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.3290G>A (p.Arg1097His)

gnomAD frequency: 0.00001  dbSNP: rs118203750
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000541570 SCV000641635 benign Tuberous sclerosis 1 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV000565824 SCV000675379 likely benign Hereditary cancer-predisposing syndrome 2022-12-06 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV001675599 SCV001895645 benign not provided 2021-02-25 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 18830229, 32906206, 21309039)
Genome-Nilou Lab RCV000541570 SCV002040001 likely benign Tuberous sclerosis 1 2021-11-07 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000042271 SCV004840445 benign Tuberous sclerosis syndrome 2023-07-22 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC1) RCV000042271 SCV000066060 not provided Tuberous sclerosis syndrome no assertion provided curation
Clinical Genetics, Academic Medical Center RCV001675599 SCV001918703 uncertain significance not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001675599 SCV001951446 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001675599 SCV001964544 uncertain significance not provided no assertion criteria provided clinical testing

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