Submissions for variant NM_000548.5(TSC2):c.3276G>C (p.Pro1092=)

dbSNP: rs368923127

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000644275	SCV000765968	likely benign	Tuberous sclerosis 2	2024-01-24	criteria provided, single submitter	clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	RCV003237970	SCV002011336	likely benign	not provided	2021-11-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000644275	SCV002039305	benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002449029	SCV002612573	likely benign	Hereditary cancer-predisposing syndrome	2021-08-05	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.
CeGaT Center for Human Genetics Tuebingen	RCV003237970	SCV005075551	likely benign	not provided	2024-06-01	criteria provided, single submitter	clinical testing	TSC2: BP4, BP7