Submissions for variant NM_000548.5(TSC2):c.630G>A (p.Ala210=)

gnomAD frequency: 0.00007  dbSNP: rs567756494

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000227094	SCV000285468	benign	Tuberous sclerosis 2	2024-01-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000392629	SCV000395563	likely benign	Tuberous sclerosis syndrome	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001711627	SCV000516858	likely benign	not provided	2019-03-20	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000491740	SCV000579602	likely benign	Hereditary cancer-predisposing syndrome	2016-04-22	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.
Genome-Nilou Lab	RCV000227094	SCV002041243	benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000491740	SCV002534084	benign	Hereditary cancer-predisposing syndrome	2021-07-19	criteria provided, single submitter	curation
CeGaT Center for Human Genetics Tuebingen	RCV001711627	SCV004133806	likely benign	not provided	2023-04-01	criteria provided, single submitter	clinical testing	TSC2: BP4, BP7, BS1