ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1149C>T (p.Ile383=)

dbSNP: rs764246333
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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 RCV001396580 SCV001598313 likely benign Tuberous sclerosis 2 2024-12-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002456621 SCV002617484 likely benign Hereditary cancer-predisposing syndrome 2021-01-12 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.
Breakthrough Genomics, Breakthrough Genomics RCV004704523 SCV005216965 likely benign not provided criteria provided, single submitter not provided
CeGaT Center for Human Genetics Tuebingen RCV004704523 SCV005432304 likely benign not provided 2024-09-01 criteria provided, single submitter clinical testing TSC2: BP4, BP7

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