ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2966+5C>T

gnomAD frequency: 0.00001  dbSNP: rs767328300
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000568857 SCV000675580 likely benign Hereditary cancer-predisposing syndrome 2022-03-25 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.
Invitae RCV000644213 SCV000765904 likely benign Tuberous sclerosis 2 2024-01-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000644213 SCV002039704 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing

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