Submissions for variant NM_000548.5(TSC2):c.4087G>A (p.Val1363Ile)

dbSNP: rs751203255

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001086293	SCV000544305	benign	Tuberous sclerosis 2	2023-12-07	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000713932	SCV000844579	uncertain significance	not provided	2017-11-20	criteria provided, single submitter	clinical testing
GeneDx	RCV000713932	SCV001795460	likely benign	not provided	2021-07-21	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001086293	SCV002039825	likely benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV002257693	SCV002533499	uncertain significance	Hereditary cancer-predisposing syndrome	2021-07-27	criteria provided, single submitter	curation
Ambry Genetics	RCV002257693	SCV002626522	likely benign	Hereditary cancer-predisposing syndrome	2021-12-01	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.