Submissions for variant NM_000548.5(TSC2):c.3102C>T (p.Val1034=)

dbSNP: rs562998574

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000232349	SCV000285332	likely benign	Tuberous sclerosis 2	2023-10-28	criteria provided, single submitter	clinical testing
GeneDx	RCV001540412	SCV001758295	uncertain significance	not provided	2021-04-22	criteria provided, single submitter	clinical testing	Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Genome-Nilou Lab	RCV000232349	SCV002039714	likely benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002321857	SCV002607801	likely benign	Hereditary cancer-predisposing syndrome	2020-02-19	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
CeGaT Center for Human Genetics Tuebingen	RCV001540412	SCV004133842	likely benign	not provided	2022-03-01	criteria provided, single submitter	clinical testing	TSC2: BP4, BP7
Color Diagnostics, LLC DBA Color Health	RCV000232349	SCV004360895	likely benign	Tuberous sclerosis 2	2022-09-28	criteria provided, single submitter	clinical testing