Submissions for variant NM_000368.5(TSC1):c.851G>A (p.Arg284His)

gnomAD frequency: 0.00008  dbSNP: rs151309813

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001080486	SCV000552354	benign	Tuberous sclerosis 1	2024-02-01	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000034612	SCV001146271	benign	not provided	2018-10-24	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001017939	SCV001179108	benign	Hereditary cancer-predisposing syndrome	2021-03-18	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Genome-Nilou Lab	RCV001080486	SCV002040142	benign	Tuberous sclerosis 1	2021-11-07	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV001017939	SCV002531493	uncertain significance	Hereditary cancer-predisposing syndrome	2021-08-09	criteria provided, single submitter	curation
Myriad Genetics, Inc.	RCV001080486	SCV005404693	likely benign	Tuberous sclerosis 1	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.
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000034612	SCV000043520	variant of unknown significance	not provided	2012-07-13	no assertion criteria provided	research	Converted during submission to Uncertain significance.