Submissions for variant NM_000548.5(TSC2):c.716T>G (p.Phe239Cys)

dbSNP: rs778544723

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001721234	SCV000243639	likely benign	not provided	2020-05-29	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000464650	SCV000544327	benign	Tuberous sclerosis 2	2024-11-18	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000464650	SCV002041256	benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002372159	SCV002662268	likely benign	Hereditary cancer-predisposing syndrome	2022-02-08	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.
All of Us Research Program, National Institutes of Health	RCV003996878	SCV004839523	likely benign	Tuberous sclerosis syndrome	2023-11-02	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV000464650	SCV005407544	likely benign	Tuberous sclerosis 2	2024-08-27	criteria provided, single submitter	clinical testing	This variant is considered likely benign. This variant has been observed at a population frequency that is significantly greater than expected given the associated disease prevalence and penetrance.