ClinVar Miner

Submissions for variant NM_012188.5(FOXI1):c.279G>A (p.Arg93=)

gnomAD frequency: 0.29024  dbSNP: rs2277944
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000397325 SCV000456184 benign Autosomal recessive nonsyndromic hearing loss 4 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.
GeneDx RCV001643069 SCV001855554 benign not provided 2018-11-11 criteria provided, single submitter clinical testing
Invitae RCV001643069 SCV002406392 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001528468 SCV001740264 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001528468 SCV001956199 benign not specified no assertion criteria provided clinical testing

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