Submissions for variant NM_003321.5(TUFM):c.817+13T>C

gnomAD frequency: 0.34806  dbSNP: rs4788099

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000265919	SCV000396359	benign	Combined oxidative phosphorylation defect type 4	2018-01-12	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001522443	SCV001731989	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001522443	SCV001883511	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000265919	SCV002514642	benign	Combined oxidative phosphorylation defect type 4	2021-12-05	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001522443	SCV005296055	benign	not provided		criteria provided, single submitter	not provided