Submissions for variant NM_000548.5(TSC2):c.1818C>T (p.Ile606=)

gnomAD frequency: 0.00002  dbSNP: rs547389841

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000318008	SCV000340589	uncertain significance	not provided	2016-03-24	criteria provided, single submitter	clinical testing
Invitae	RCV001080275	SCV000766021	benign	Tuberous sclerosis 2	2024-01-15	criteria provided, single submitter	clinical testing
GeneDx	RCV000318008	SCV001940282	likely benign	not provided	2020-05-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001080275	SCV002039578	likely benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV002257626	SCV002531004	benign	Hereditary cancer-predisposing syndrome	2022-01-05	criteria provided, single submitter	curation
Ambry Genetics	RCV002257626	SCV002711050	likely benign	Hereditary cancer-predisposing syndrome	2019-12-18	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.