ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.1882T>C (p.Leu628=)

gnomAD frequency: 0.00001  dbSNP: rs375534013
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000054947 SCV000478221 uncertain significance Tuberous sclerosis syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000393416 SCV000478222 uncertain significance Isolated focal cortical dysplasia type II 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000563693 SCV000664631 likely benign Hereditary cancer-predisposing syndrome 2016-03-16 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000642084 SCV000763737 likely benign Tuberous sclerosis 1 2025-01-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000642084 SCV002040086 likely benign Tuberous sclerosis 1 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000563693 SCV002530938 likely benign Hereditary cancer-predisposing syndrome 2021-08-27 criteria provided, single submitter curation
All of Us Research Program, National Institutes of Health RCV000054947 SCV004832461 likely benign Tuberous sclerosis syndrome 2024-05-30 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC1) RCV000054947 SCV000083163 not provided Tuberous sclerosis syndrome no assertion provided curation
PreventionGenetics, part of Exact Sciences RCV004745183 SCV005345653 likely benign TSC1-related disorder 2024-04-26 no assertion criteria provided 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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