Submissions for variant NM_000548.5(TSC2):c.5346C>T (p.Ala1782=)

dbSNP: rs557200243

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000226139	SCV000285459	benign	Tuberous sclerosis 2	2024-12-18	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000573071	SCV000675598	likely benign	Hereditary cancer-predisposing syndrome	2016-09-06	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.
GeneDx	RCV001697226	SCV000722422	likely benign	not provided	2021-06-02	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000226139	SCV002039956	benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000573071	SCV002534058	likely benign	Hereditary cancer-predisposing syndrome	2021-08-25	criteria provided, single submitter	curation
All of Us Research Program, National Institutes of Health	RCV003998840	SCV004820499	likely benign	Tuberous sclerosis syndrome	2024-02-05	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001697226	SCV001974303	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001697226	SCV001978966	likely benign	not provided		no assertion criteria provided	clinical testing