Submissions for variant NM_000548.5(TSC2):c.4223G>T (p.Gly1408Val)

gnomAD frequency: 0.00025  dbSNP: rs202068995

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000713933	SCV000243704	likely benign	not provided	2020-03-25	criteria provided, single submitter	clinical testing
Invitae	RCV001087398	SCV000544306	benign	Tuberous sclerosis 2	2024-01-13	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000491452	SCV000579616	benign	Hereditary cancer-predisposing syndrome	2018-08-01	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Athena Diagnostics Inc	RCV000713933	SCV000844580	uncertain significance	not provided	2018-08-22	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001087398	SCV002039838	benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000491452	SCV002533515	likely benign	Hereditary cancer-predisposing syndrome	2021-03-22	criteria provided, single submitter	curation
CeGaT Center for Human Genetics Tuebingen	RCV000713933	SCV004010429	uncertain significance	not provided	2023-06-01	criteria provided, single submitter	clinical testing