Submissions for variant NM_000548.5(TSC2):c.3793C>T (p.Pro1265Ser)

gnomAD frequency: 0.00001  dbSNP: rs45517311

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000539148	SCV000644474	benign	Tuberous sclerosis 2	2024-01-08	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000565068	SCV000675673	likely benign	Hereditary cancer-predisposing syndrome	2020-02-10	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.
Johns Hopkins Genomics, Johns Hopkins University	RCV000539148	SCV001433642	likely benign	Tuberous sclerosis 2	2019-12-03	criteria provided, single submitter	clinical testing
GeneDx	RCV001650884	SCV001866943	benign	not provided	2020-12-07	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000539148	SCV002039374	benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Tuberous sclerosis database (TSC2)	RCV000043288	SCV000067090	not provided	Tuberous sclerosis syndrome		no assertion provided	curation