Submissions for variant NM_000548.5(TSC2):c.5016C>T (p.Ile1672=)

gnomAD frequency: 0.00007  dbSNP: rs370770569

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000466058	SCV000556503	benign	Tuberous sclerosis 2	2024-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000572887	SCV000675515	likely benign	Hereditary cancer-predisposing syndrome	2015-06-05	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	RCV001704567	SCV000730314	benign	not provided	2020-01-16	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000466058	SCV002039886	benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001704567	SCV002497864	likely benign	not provided	2022-12-01	criteria provided, single submitter	clinical testing	TSC2: BP4, BP7
Sema4, Sema4	RCV000572887	SCV002534002	likely benign	Hereditary cancer-predisposing syndrome	2021-05-13	criteria provided, single submitter	curation