ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1258-5G>T

gnomAD frequency: 0.00003  dbSNP: rs925954967
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000460314 SCV000556554 likely benign Tuberous sclerosis 2 2024-01-18 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000502223 SCV000597594 uncertain significance not specified 2015-10-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002257738 SCV000847724 likely benign Hereditary cancer-predisposing syndrome 2020-06-30 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.
GeneDx RCV001536183 SCV001752905 likely benign not provided 2020-12-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000460314 SCV002041144 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002257738 SCV002532759 likely benign Hereditary cancer-predisposing syndrome 2022-01-24 criteria provided, single submitter curation

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