Submissions for variant NM_000548.5(TSC2):c.945G>A (p.Ser315=)

gnomAD frequency: 0.00002  dbSNP: rs763948768

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000253881	SCV000305261	likely benign	not specified		criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001080071	SCV000644685	likely benign	Tuberous sclerosis 2	2025-01-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000571633	SCV000675506	likely benign	Hereditary cancer-predisposing syndrome	2016-05-05	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.
GeneDx	RCV000827270	SCV000968905	likely benign	not provided	2018-05-11	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	RCV001080071	SCV002041279	benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV003998989	SCV004817047	likely benign	Tuberous sclerosis syndrome	2024-08-05	criteria provided, single submitter	clinical testing