Submissions for variant NM_000548.5(TSC2):c.3069G>A (p.Thr1023=)

gnomAD frequency: 0.00004  dbSNP: rs373950550

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000234387	SCV000285330	benign	Tuberous sclerosis 2	2025-02-02	criteria provided, single submitter	clinical testing
GeneDx	RCV001705242	SCV000515036	likely benign	not provided	2021-04-21	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000571675	SCV000664681	likely benign	Hereditary cancer-predisposing syndrome	2016-08-25	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.
Genome-Nilou Lab	RCV000234387	SCV002039283	benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000571675	SCV002533363	benign	Hereditary cancer-predisposing syndrome	2020-10-28	criteria provided, single submitter	curation
Fulgent Genetics, Fulgent Genetics	RCV002494628	SCV002809675	likely benign	Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2	2022-05-12	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001705242	SCV005216993	likely benign	not provided		criteria provided, single submitter	not provided
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000234387	SCV005881415	benign	Tuberous sclerosis 2	2025-02-01	criteria provided, single submitter	clinical testing