Submissions for variant NM_000548.5(TSC2):c.201C>T (p.Val67=)

gnomAD frequency: 0.00003  dbSNP: rs45460096

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000465495	SCV000556529	benign	Tuberous sclerosis 2	2024-01-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001014071	SCV001174735	likely benign	Hereditary cancer-predisposing syndrome	2018-06-13	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	RCV001091436	SCV001788490	likely benign	not provided	2021-09-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000465495	SCV002041189	benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002477139	SCV002795652	likely benign	Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2	2022-01-09	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV000043366	SCV004816924	likely benign	Tuberous sclerosis syndrome	2024-09-23	criteria provided, single submitter	clinical testing
Tuberous sclerosis database (TSC2)	RCV000043366	SCV000067172	not provided	Tuberous sclerosis syndrome		no assertion provided	curation