Submissions for variant NM_000368.5(TSC1):c.1200C>G (p.Leu400=)

gnomAD frequency: 0.00001  dbSNP: rs767514820

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000473277	SCV000562458	likely benign	Tuberous sclerosis 1	2024-01-21	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000575006	SCV000675398	likely benign	Hereditary cancer-predisposing syndrome	2016-10-04	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.
Genome-Nilou Lab	RCV000473277	SCV002040462	benign	Tuberous sclerosis 1	2021-11-07	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000473277	SCV004360830	likely benign	Tuberous sclerosis 1	2022-08-30	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV004002183	SCV004840473	likely benign	Tuberous sclerosis syndrome	2023-12-01	criteria provided, single submitter	clinical testing