ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2348C>T (p.Thr783Ile)

dbSNP: rs562945619
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000166680 SCV000217488 likely benign Hereditary cancer-predisposing syndrome 2022-04-27 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 RCV000477064 SCV000544377 benign Tuberous sclerosis 2 2023-12-06 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000477064 SCV002039645 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000166680 SCV002531061 likely benign Hereditary cancer-predisposing syndrome 2021-06-29 criteria provided, single submitter curation
ITMI RCV000122213 SCV000086434 not provided not specified 2013-09-19 no assertion provided reference population

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