ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4023C>A (p.Ser1341Arg)

dbSNP: rs45462593
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001703933 SCV000516162 benign not provided 2020-12-29 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 15595939, 32906206)
Invitae RCV000457664 SCV000556691 benign Tuberous sclerosis 2 2023-12-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000457664 SCV002039412 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002354223 SCV002622344 likely benign Hereditary cancer-predisposing syndrome 2020-05-15 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.
Revvity Omics, Revvity RCV000457664 SCV004236974 uncertain significance Tuberous sclerosis 2 2023-08-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003894876 SCV004716210 likely benign TSC2-related condition 2023-06-12 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).
All of Us Research Program, National Institutes of Health RCV000042541 SCV004829689 likely benign Tuberous sclerosis syndrome 2023-08-08 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000042541 SCV000066334 not provided Tuberous sclerosis syndrome no assertion provided curation

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