Submissions for variant NM_000548.5(TSC2):c.3711G>A (p.Ala1237=)

gnomAD frequency: 0.00001  dbSNP: rs754945653

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000470065	SCV000544342	benign	Tuberous sclerosis 2	2024-12-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000565878	SCV000675585	likely benign	Hereditary cancer-predisposing syndrome	2015-10-05	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.
GeneDx	RCV001696873	SCV000718051	likely benign	not provided	2021-03-08	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000470065	SCV002039362	benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000565878	SCV002533439	benign	Hereditary cancer-predisposing syndrome	2021-02-17	criteria provided, single submitter	curation
Fulgent Genetics, Fulgent Genetics	RCV002506104	SCV002808331	likely benign	Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2	2022-05-26	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003387848	SCV004099680	benign	not specified	2023-09-10	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV004000684	SCV004823469	benign	Tuberous sclerosis syndrome	2024-01-11	criteria provided, single submitter	clinical testing