ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3281C>T (p.Ser1094Leu)

dbSNP: rs397514887
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000472588 SCV000556613 benign Tuberous sclerosis 2 2024-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV001019643 SCV001181028 likely benign Hereditary cancer-predisposing syndrome 2018-08-03 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.
GeneDx RCV001545684 SCV001765063 likely benign not provided 2018-07-25 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28481359)
Genome-Nilou Lab RCV000472588 SCV002039306 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001019643 SCV002533379 benign Hereditary cancer-predisposing syndrome 2021-09-16 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV002496735 SCV002804421 likely benign Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 2022-01-06 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV000472588 SCV004016192 benign Tuberous sclerosis 2 2023-07-07 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001545684 SCV004221430 uncertain significance not provided 2014-08-07 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000055056 SCV000083274 not provided Tuberous sclerosis syndrome no assertion provided curation

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