ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.36G>A (p.Lys12=)

dbSNP: rs1596233951
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000930139 SCV001075784 likely benign Tuberous sclerosis 2 2023-09-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002346102 SCV002622936 likely benign Hereditary cancer-predisposing syndrome 2022-07-29 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.
Color Diagnostics, LLC DBA Color Health RCV000930139 SCV004360840 likely benign Tuberous sclerosis 2 2023-09-24 criteria provided, single submitter clinical testing

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