Submissions for variant NM_000548.5(TSC2):c.3955G>A (p.Asp1319Asn)

gnomAD frequency: 0.00001  dbSNP: rs375883030

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001088738	SCV000544477	likely benign	Tuberous sclerosis 2	2024-01-13	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000475183	SCV001150715	uncertain significance	not provided	2016-07-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001021517	SCV001183143	benign	Hereditary cancer-predisposing syndrome	2021-05-27	criteria provided, single submitter	clinical testing	This alteration is classified as 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	RCV000475183	SCV001759450	likely benign	not provided	2021-01-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001088738	SCV002039797	likely benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
New York Genome Center	RCV001088738	SCV002548663	uncertain significance	Tuberous sclerosis 2	2021-07-09	criteria provided, single submitter	clinical testing