Submissions for variant NM_000368.5(TSC1):c.915G>A (p.Gly305=)

dbSNP: rs397515293

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000526995	SCV000641677	benign	Tuberous sclerosis 1	2024-01-02	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001018932	SCV001180229	likely benign	Hereditary cancer-predisposing syndrome	2019-09-30	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	RCV001570973	SCV001795352	likely benign	not provided	2019-05-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000526995	SCV002040484	benign	Tuberous sclerosis 1	2021-11-07	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV000054929	SCV004840511	likely benign	Tuberous sclerosis syndrome	2024-02-05	criteria provided, single submitter	clinical testing
Tuberous sclerosis database (TSC1)	RCV000054929	SCV000083144	not provided	Tuberous sclerosis syndrome		no assertion provided	curation