Submissions for variant NM_000368.5(TSC1):c.479G>A (p.Arg160His)

gnomAD frequency: 0.00005  dbSNP: rs749979841

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001084683	SCV000284728	likely benign	Tuberous sclerosis 1	2024-02-01	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000361865	SCV000332721	uncertain significance	not provided	2015-07-08	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001023070	SCV001184890	likely benign	Hereditary cancer-predisposing syndrome	2020-04-08	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	RCV000361865	SCV001791077	likely benign	not provided	2020-06-29	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001084683	SCV002040165	likely benign	Tuberous sclerosis 1	2021-11-07	criteria provided, single submitter	clinical testing
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University	RCV003153524	SCV003843607	likely pathogenic	Ovarian cancer	2022-01-01	criteria provided, single submitter	clinical testing