Submissions for variant NM_000548.5(TSC2):c.3996C>T (p.Ala1332=)

dbSNP: rs1421997373

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV001021607	SCV001183245	likely benign	Hereditary cancer-predisposing syndrome	2019-01-16	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	RCV000869137	SCV001334516	likely benign	not provided	2020-03-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001519063	SCV001727866	benign	Tuberous sclerosis 2	2024-11-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001519063	SCV002039404	benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV004003035	SCV004815220	likely benign	Tuberous sclerosis syndrome	2023-12-01	criteria provided, single submitter	clinical testing