Submissions for variant NM_000548.5(TSC2):c.993C>T (p.Asn331=)

gnomAD frequency: 0.00002  dbSNP: rs45517153

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000950328	SCV001096627	likely benign	Tuberous sclerosis 2	2024-01-11	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001019915	SCV001181329	likely benign	Hereditary cancer-predisposing syndrome	2017-10-17	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.
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University	RCV000950328	SCV001430719	likely benign	Tuberous sclerosis 2	2020-07-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000950328	SCV002041290	benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Tuberous sclerosis database (TSC2)	RCV000043236	SCV000067037	not provided	Tuberous sclerosis syndrome		no assertion provided	curation