Submissions for variant NM_000548.5(TSC2):c.975+13C>T

gnomAD frequency: 0.00051  dbSNP: rs200564575

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000250873	SCV000305263	likely benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000250873	SCV000515012	likely benign	not specified	2017-06-08	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.
Illumina Laboratory Services, Illumina	RCV000055149	SCV001277272	likely benign	Tuberous sclerosis syndrome	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Genome-Nilou Lab	RCV001797619	SCV002041284	benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Invitae	RCV001797619	SCV002402559	benign	Tuberous sclerosis 2	2024-02-01	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV002256035	SCV002534128	benign	Hereditary cancer-predisposing syndrome	2021-06-27	criteria provided, single submitter	curation
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001529198	SCV004563170	benign	not provided	2023-02-10	criteria provided, single submitter	clinical testing
Tuberous sclerosis database (TSC2)	RCV000055149	SCV000083367	not provided	Tuberous sclerosis syndrome		no assertion provided	curation
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001529198	SCV001742262	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001529198	SCV001921721	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000250873	SCV001963996	benign	not specified		no assertion criteria provided	clinical testing