Submissions for variant NM_000548.5(TSC2):c.3723C>T (p.Phe1241=)

gnomAD frequency: 0.00082  dbSNP: rs45486193

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000163886	SCV000214476	likely benign	Hereditary cancer-predisposing syndrome	2014-09-24	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	RCV001082224	SCV000285361	benign	Tuberous sclerosis 2	2025-01-23	criteria provided, single submitter	clinical testing
GeneDx	RCV000713929	SCV000515039	benign	not provided	2019-08-09	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 17304050)
Eurofins Ntd Llc (ga)	RCV000713929	SCV000701912	uncertain significance	not provided	2016-10-06	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000713929	SCV000844576	benign	not provided	2017-11-22	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001082224	SCV002039779	benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000163886	SCV002533440	benign	Hereditary cancer-predisposing syndrome	2020-12-03	criteria provided, single submitter	curation
CeGaT Center for Human Genetics Tuebingen	RCV000713929	SCV004033432	likely benign	not provided	2023-08-01	criteria provided, single submitter	clinical testing	TSC2: BP4, BP7, BS1
Color Diagnostics, LLC DBA Color Health	RCV001082224	SCV004360903	benign	Tuberous sclerosis 2	2022-10-03	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000713929	SCV004564607	benign	not provided	2023-11-17	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV000042530	SCV004823326	benign	Tuberous sclerosis syndrome	2024-02-05	criteria provided, single submitter	clinical testing
Tuberous sclerosis database (TSC2)	RCV000042530	SCV000066321	not provided	Tuberous sclerosis syndrome		no assertion provided	curation
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000713929	SCV001809145	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000713929	SCV001971862	likely benign	not provided		no assertion criteria provided	clinical testing