Submissions for variant NM_000548.5(TSC2):c.5014A>G (p.Ile1672Val)

gnomAD frequency: 0.00002  dbSNP: rs374066182

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000466909	SCV000544539	benign	Tuberous sclerosis 2	2024-01-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001023422	SCV001185292	likely benign	Hereditary cancer-predisposing syndrome	2020-10-29	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	RCV001538711	SCV001756395	likely benign	not provided	2019-08-01	criteria provided, single submitter	clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	RCV001538711	SCV002011326	uncertain significance	not provided	2021-11-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000466909	SCV002040243	likely benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV001023422	SCV002534001	likely benign	Hereditary cancer-predisposing syndrome	2021-04-20	criteria provided, single submitter	curation
CeGaT Center for Human Genetics Tuebingen	RCV001538711	SCV004129876	uncertain significance	not provided	2022-04-01	criteria provided, single submitter	clinical testing