ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3648C>T (p.Leu1216=)

gnomAD frequency: 0.00001  dbSNP: rs777246414
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000464416 SCV000556463 benign Tuberous sclerosis 2 2024-12-15 criteria provided, single submitter clinical testing
GeneDx RCV000611673 SCV000725207 likely benign not provided 2021-03-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000464416 SCV002039353 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002451159 SCV002613832 likely benign Hereditary cancer-predisposing syndrome 2017-12-28 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
All of Us Research Program, National Institutes of Health RCV004002051 SCV004825603 likely benign Tuberous sclerosis syndrome 2023-05-16 criteria provided, single submitter clinical testing

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