Submissions for variant NM_012179.4(FBXO7):c.949C>T (p.Leu317=)

gnomAD frequency: 0.40979  dbSNP: rs9726

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000611094	SCV000437998	benign	Parkinsonian-pyramidal 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000611094	SCV000744150	benign	Parkinsonian-pyramidal syndrome	2015-09-21	criteria provided, single submitter	clinical testing
Invitae	RCV000611094	SCV001732209	benign	Parkinsonian-pyramidal syndrome	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001672611	SCV001891827	benign	not provided	2018-08-17	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000611094	SCV000734126	benign	Parkinsonian-pyramidal syndrome		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000611094	SCV000745603	benign	Parkinsonian-pyramidal syndrome	2016-03-28	no assertion criteria provided	clinical testing