Submissions for variant NM_000548.5(TSC2):c.4990-5G>T

dbSNP: rs753000765

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000437320	SCV000526761	likely benign	not specified	2016-04-19	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000644194	SCV000765884	likely benign	Tuberous sclerosis 2	2023-12-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000644194	SCV002039884	benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002339044	SCV002640434	likely benign	Hereditary cancer-predisposing syndrome	2023-12-06	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.
CeGaT Center for Human Genetics Tuebingen	RCV003392244	SCV004129875	likely benign	not provided	2022-11-01	criteria provided, single submitter	clinical testing	TSC2: BP4