Submissions for variant NM_000548.5(TSC2):c.3365G>A (p.Arg1122His)

gnomAD frequency: 0.00004  dbSNP: rs369536711

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000548172	SCV000644429	benign	Tuberous sclerosis 2	2024-01-12	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001020102	SCV001181535	likely benign	Hereditary cancer-predisposing syndrome	2021-05-12	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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	RCV001551674	SCV001772233	likely benign	not provided	2019-07-29	criteria provided, single submitter	clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	RCV001551674	SCV002011332	uncertain significance	not provided	2021-11-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000548172	SCV002039738	likely benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV001020102	SCV002533391	likely benign	Hereditary cancer-predisposing syndrome	2021-12-29	criteria provided, single submitter	curation