Submissions for variant NM_000548.5(TSC2):c.4707C>T (p.Tyr1569=)

gnomAD frequency: 0.00001  dbSNP: rs397515277

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000869754	SCV001011209	likely benign	Tuberous sclerosis 2	2023-12-08	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001022929	SCV001184729	likely benign	Hereditary cancer-predisposing syndrome	2019-08-14	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	RCV001556902	SCV001778567	likely benign	not provided	2020-11-12	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 9302281)
Genome-Nilou Lab	RCV000869754	SCV002039513	benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001556902	SCV004184511	likely benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing	TSC2: BP4, BP7
All of Us Research Program, National Institutes of Health	RCV004003051	SCV004818147	likely benign	Tuberous sclerosis syndrome	2023-11-30	criteria provided, single submitter	clinical testing