ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5199C>T (p.Thr1733=)

gnomAD frequency: 0.00001  dbSNP: rs778378296
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Preventiongenetics, part of Exact Sciences RCV000242377 SCV000305244 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000468975 SCV000556684 benign Tuberous sclerosis 2 2024-01-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV000569252 SCV000675583 likely benign Hereditary cancer-predisposing syndrome 2015-11-09 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 RCV000468975 SCV002039924 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000569252 SCV002534029 likely benign Hereditary cancer-predisposing syndrome 2021-05-21 criteria provided, single submitter curation

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