Submissions for variant NM_000368.5(TSC1):c.2932C>G (p.Leu978Val)

gnomAD frequency: 0.00001  dbSNP: rs397514859

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000724068	SCV000227887	uncertain significance	not provided	2014-08-22	criteria provided, single submitter	clinical testing
GeneDx	RCV000724068	SCV000515002	benign	not provided	2019-02-28	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 23514105, 22161988, 24714658)
Invitae	RCV001081160	SCV000641604	likely benign	Tuberous sclerosis 1	2024-01-25	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002316209	SCV000850146	likely benign	Hereditary cancer-predisposing syndrome	2018-07-27	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.
Genome-Nilou Lab	RCV001081160	SCV002040029	likely benign	Tuberous sclerosis 1	2021-11-07	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV000055001	SCV004840451	likely benign	Tuberous sclerosis syndrome	2023-11-02	criteria provided, single submitter	clinical testing
Tuberous sclerosis database (TSC1)	RCV000055001	SCV000083219	not provided	Tuberous sclerosis syndrome		no assertion provided	curation