ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4956C>T (p.Asp1652=)

gnomAD frequency: 0.00002  dbSNP: rs1376515823
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000556214 SCV000644584 likely benign Tuberous sclerosis 2 2023-12-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV001023318 SCV001185177 likely benign Hereditary cancer-predisposing syndrome 2018-12-13 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.
GeneDx RCV001709665 SCV001937744 likely benign not provided 2019-12-13 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000556214 SCV002039876 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV003151094 SCV003839172 likely benign not specified 2022-07-27 no assertion criteria provided clinical testing

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