Submissions for variant NM_000548.5(TSC2):c.3969G>A (p.Ala1323=)

gnomAD frequency: 0.00003  dbSNP: rs749057825

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000229879	SCV000285377	benign	Tuberous sclerosis 2	2024-01-24	criteria provided, single submitter	clinical testing
GeneDx	RCV001705244	SCV000515043	likely benign	not provided	2021-03-29	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000438588	SCV000615905	benign	not specified	2016-09-16	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001021545	SCV001183172	likely benign	Hereditary cancer-predisposing syndrome	2017-04-13	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.
Genome-Nilou Lab	RCV000229879	SCV002039400	benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV001021545	SCV002533477	likely benign	Hereditary cancer-predisposing syndrome	2022-03-13	criteria provided, single submitter	curation
Color Diagnostics, LLC DBA Color Health	RCV000229879	SCV004360910	likely benign	Tuberous sclerosis 2	2022-10-05	criteria provided, single submitter	clinical testing