ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.411C>T (p.His137=)

gnomAD frequency: 0.00002  dbSNP: rs776129896
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000534425 SCV000644508 benign Tuberous sclerosis 2 2024-01-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000572402 SCV000675621 likely benign Hereditary cancer-predisposing syndrome 2016-04-13 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 RCV000534425 SCV002041217 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821553 SCV002068034 likely benign not specified 2021-11-09 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV000534425 SCV004016166 likely benign Tuberous sclerosis 2 2023-07-07 criteria provided, single submitter clinical testing

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