ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1717-4del

gnomAD frequency: 0.00001  dbSNP: rs1362347834
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001064190 SCV001229073 likely benign Tuberous sclerosis 2 2024-12-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002402447 SCV002713592 likely benign Hereditary cancer-predisposing syndrome 2022-08-30 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 RCV004000140 SCV004833954 likely benign Tuberous sclerosis syndrome 2023-07-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004720746 SCV005329899 uncertain significance not provided 2024-08-01 criteria provided, single submitter clinical testing TSC2: PM2, BP4

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