Submissions for variant NM_000368.5(TSC1):c.2626-3C>T

gnomAD frequency: 0.00608  dbSNP: rs1060503192

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000460170	SCV000552266	uncertain significance	Tuberous sclerosis 1	2018-01-17	criteria provided, single submitter	clinical testing
Mendelics	RCV000460170	SCV001137929	likely benign	Tuberous sclerosis 1	2019-05-28	criteria provided, single submitter	clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	RCV001703175	SCV002009244	uncertain significance	not provided	2021-11-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000460170	SCV002040044	uncertain significance	Tuberous sclerosis 1	2021-11-07	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002429538	SCV002744644	benign	Hereditary cancer-predisposing syndrome	2020-07-23	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
CeGaT Center for Human Genetics Tuebingen	RCV001703175	SCV004032894	likely benign	not provided	2023-09-01	criteria provided, single submitter	clinical testing	TSC1: BP4, BS1
Color Diagnostics, LLC DBA Color Health	RCV000460170	SCV004360808	likely benign	Tuberous sclerosis 1	2018-03-05	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001703175	SCV001929634	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001703175	SCV001969851	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003912811	SCV004729313	benign	TSC1-related disorder	2020-12-09	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).