Submissions for variant NM_000368.5(TSC1):c.942G>A (p.Thr314=)

gnomAD frequency: 0.00003  dbSNP: rs144208203

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000545004	SCV000641681	likely benign	Tuberous sclerosis 1	2024-01-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002448705	SCV002682933	likely benign	Hereditary cancer-predisposing syndrome	2019-12-30	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.
All of Us Research Program, National Institutes of Health	RCV003999231	SCV004840507	likely benign	Tuberous sclerosis syndrome	2023-11-20	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV001729630	SCV001979120	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001729631	SCV001980344	benign	not specified		no assertion criteria provided	clinical testing