Submissions for variant NM_000548.5(TSC2):c.726C>T (p.Thr242=)

dbSNP: rs570051626

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000251683	SCV000305255	likely benign	not specified		criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000525190	SCV000644662	benign	Tuberous sclerosis 2	2024-12-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001026217	SCV001188555	likely benign	Hereditary cancer-predisposing syndrome	2017-09-27	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	RCV001640487	SCV001858393	benign	not provided	2019-07-08	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000525190	SCV002041259	benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV001026217	SCV002534101	benign	Hereditary cancer-predisposing syndrome	2021-06-16	criteria provided, single submitter	curation
Fulgent Genetics, Fulgent Genetics	RCV002479962	SCV002795530	likely benign	Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2	2021-11-18	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV003998988	SCV004817013	benign	Tuberous sclerosis syndrome	2023-12-01	criteria provided, single submitter	clinical testing