ClinVar Miner

Submissions for variant NM_012179.4(FBXO7):c.345G>A (p.Met115Ile)

gnomAD frequency: 0.40992  dbSNP: rs11107
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175837 SCV000227403 benign not specified 2015-05-21 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000616422 SCV000437992 benign Parkinsonian-pyramidal syndrome 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.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000616422 SCV000744147 benign Parkinsonian-pyramidal syndrome 2015-09-21 criteria provided, single submitter clinical testing
Invitae RCV000616422 SCV001726601 benign Parkinsonian-pyramidal syndrome 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001610488 SCV001841975 benign not provided 2018-08-17 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23222517)
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000616422 SCV000734124 benign Parkinsonian-pyramidal syndrome no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000616422 SCV000745601 benign Parkinsonian-pyramidal syndrome 2016-04-22 no assertion criteria provided clinical testing

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