Submissions for variant NM_000548.5(TSC2):c.4167C>T (p.Pro1389=)

gnomAD frequency: 0.00003  dbSNP: rs45508504

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000459725	SCV000556531	likely benign	Tuberous sclerosis 2	2024-01-15	criteria provided, single submitter	clinical testing
GeneDx	RCV001610338	SCV001838118	likely benign	not provided	2021-01-07	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000459725	SCV002039434	benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV002256029	SCV002533506	likely benign	Hereditary cancer-predisposing syndrome	2021-04-23	criteria provided, single submitter	curation
Ambry Genetics	RCV002256029	SCV002630422	likely benign	Hereditary cancer-predisposing syndrome	2020-10-28	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.
Tuberous sclerosis database (TSC2)	RCV000043326	SCV000067132	not provided	Tuberous sclerosis syndrome		no assertion provided	curation