ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3996C>T (p.Ala1332=)

dbSNP: rs1421997373
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001021607 SCV001183245 likely benign Hereditary cancer-predisposing syndrome 2019-01-16 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.
CeGaT Center for Human Genetics Tuebingen RCV000869137 SCV001334516 likely benign not provided 2020-03-01 criteria provided, single submitter clinical testing
Invitae RCV001519063 SCV001727866 benign Tuberous sclerosis 2 2023-12-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001519063 SCV002039404 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing

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