Submissions for variant NM_000368.5(TSC1):c.3075C>T (p.Ser1025=)

gnomAD frequency: 0.00002  dbSNP: rs765753157

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000543802	SCV000641618	likely benign	Tuberous sclerosis 1	2024-12-22	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001018475	SCV001179720	likely benign	Hereditary cancer-predisposing syndrome	2018-12-11	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.
Genome-Nilou Lab	RCV000543802	SCV002040346	benign	Tuberous sclerosis 1	2021-11-07	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV001018475	SCV002531417	likely benign	Hereditary cancer-predisposing syndrome	2021-12-26	criteria provided, single submitter	curation
Fulgent Genetics, Fulgent Genetics	RCV002497130	SCV002807557	likely benign	Lymphangiomyomatosis; Tuberous sclerosis 1; Isolated focal cortical dysplasia type II	2021-09-03	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000543802	SCV004016087	likely benign	Tuberous sclerosis 1	2023-07-07	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV003999217	SCV004840448	likely benign	Tuberous sclerosis syndrome	2023-10-27	criteria provided, single submitter	clinical testing