ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.583A>G (p.Ile195Val)

gnomAD frequency: 0.00003  dbSNP: rs148325559
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189962 SCV000243633 likely benign not provided 2021-06-06 criteria provided, single submitter clinical testing
Invitae RCV000205768 SCV000262300 benign Tuberous sclerosis 2 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV000573793 SCV000675498 likely benign Hereditary cancer-predisposing syndrome 2018-09-21 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Genome-Nilou Lab RCV000205768 SCV002041235 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000573793 SCV002534076 likely benign Hereditary cancer-predisposing syndrome 2021-05-25 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV002500580 SCV002808302 likely benign Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 2022-02-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000189962 SCV004133805 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing TSC2: BP4, BS2
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000189962 SCV004221475 uncertain significance not provided 2010-11-08 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000205768 SCV004360848 likely benign Tuberous sclerosis 2 2022-09-12 criteria provided, single submitter clinical testing

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