ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2998T>C (p.Leu1000=)

gnomAD frequency: 0.00001  dbSNP: rs756679047
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001697813 SCV000526174 likely benign not provided 2019-10-31 criteria provided, single submitter clinical testing
Invitae RCV001402731 SCV001604583 likely benign Tuberous sclerosis 2 2022-07-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001402731 SCV002039276 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002436295 SCV002746140 likely benign Hereditary cancer-predisposing syndrome 2022-09-10 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.

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