Submissions for variant NM_000548.5(TSC2):c.2607C>T (p.Phe869=)

gnomAD frequency: 0.00001  dbSNP: rs750336814

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000569638	SCV000675648	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: 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.
Invitae	RCV000929389	SCV001075018	likely benign	Tuberous sclerosis 2	2023-08-07	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000929389	SCV002039224	benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000929389	SCV004016178	likely benign	Tuberous sclerosis 2	2023-07-07	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV004001152	SCV004836053	likely benign	Tuberous sclerosis syndrome	2023-11-20	criteria provided, single submitter	clinical testing