Submissions for variant NM_000548.5(TSC2):c.3645G>A (p.Pro1215=)

dbSNP: rs758114962

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000469359	SCV000556558	likely benign	Tuberous sclerosis 2	2024-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000570601	SCV000675632	likely benign	Hereditary cancer-predisposing syndrome	2015-05-16	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	RCV000469359	SCV002039352	benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000570601	SCV002533436	likely benign	Hereditary cancer-predisposing syndrome	2021-04-20	criteria provided, single submitter	curation
PreventionGenetics, part of Exact Sciences	RCV003942526	SCV004765884	likely benign	TSC2-related condition	2019-12-04	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).