ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2074G>A (p.Val692Ile)

gnomAD frequency: 0.00002  dbSNP: rs201769220
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CSER _CC_NCGL, University of Washington RCV000211466 SCV000212203 uncertain significance Tuberous sclerosis syndrome 2015-03-11 criteria provided, single submitter research
Invitae RCV000542869 SCV000644317 benign Tuberous sclerosis 2 2024-01-11 criteria provided, single submitter clinical testing
GeneDx RCV001580472 SCV001817552 likely benign not provided 2021-04-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000542869 SCV002039617 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002415885 SCV002725712 likely benign Hereditary cancer-predisposing syndrome 2020-04-01 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.

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