Submissions for variant NM_000548.5(TSC2):c.4849+4C>T

gnomAD frequency: 0.00003  dbSNP: rs370426490

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001086788	SCV000285422	benign	Tuberous sclerosis 2	2024-01-18	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000568541	SCV000675606	likely benign	Hereditary cancer-predisposing syndrome	2019-02-06	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
GeneDx	RCV000841450	SCV000983417	likely benign	not provided	2020-10-26	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 28643795)
Genome-Nilou Lab	RCV001086788	SCV002039530	benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000568541	SCV002533980	likely benign	Hereditary cancer-predisposing syndrome	2022-03-10	criteria provided, single submitter	curation
CeGaT Center for Human Genetics Tuebingen	RCV000841450	SCV004129873	likely benign	not provided	2022-04-01	criteria provided, single submitter	clinical testing	TSC2: BP4
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000841450	SCV004221463	uncertain significance	not provided	2014-11-17	criteria provided, single submitter	clinical testing