ClinVar Miner

Submissions for variant NM_001023570.4(IQCB1):c.1178T>A (p.Ile393Asn)

gnomAD frequency: 0.09226  dbSNP: rs1141528
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000153382 SCV000202868 benign not specified 2014-04-28 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV000153382 SCV000305885 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000325055 SCV000440024 benign Senior-Loken syndrome 5 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.
Invitae RCV000234821 SCV001000364 benign Nephronophthisis 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001706024 SCV001839349 benign not provided 2018-11-12 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 22183348)
GeneReviews RCV000234821 SCV000292012 not provided Nephronophthisis no assertion provided literature only
Clinical Genetics, Academic Medical Center RCV000153382 SCV001920078 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000153382 SCV001928460 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000153382 SCV001972401 benign not specified no assertion criteria provided clinical testing

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