Submissions for variant NM_000548.5(TSC2):c.4716G>T (p.Thr1572=)

dbSNP: rs369346726

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000570754	SCV000675737	likely benign	Hereditary cancer-predisposing syndrome	2017-06-01	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000975644	SCV001123532	likely benign	Tuberous sclerosis 2	2023-09-19	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000975644	SCV002039514	benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000975644	SCV004360924	likely benign	Tuberous sclerosis 2	2023-05-03	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV004001169	SCV004832543	likely benign	Tuberous sclerosis syndrome	2023-06-26	criteria provided, single submitter	clinical testing