Submissions for variant NM_000548.5(TSC2):c.4041C>T (p.Leu1347=)

dbSNP: rs1060504109

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001087727	SCV000556624	likely benign	Tuberous sclerosis 2	2023-12-30	criteria provided, single submitter	clinical testing
GeneDx	RCV000829166	SCV000970879	likely benign	not provided	2018-06-08	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome-Nilou Lab	RCV001087727	SCV002039414	benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002323775	SCV002632616	likely benign	Hereditary cancer-predisposing syndrome	2020-02-26	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.