ClinVar Miner

Submissions for variant NM_001023570.4(IQCB1):c.1301G>A (p.Cys434Tyr)

gnomAD frequency: 0.25469  dbSNP: rs17849995
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000245543 SCV000305886 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000987308 SCV000440022 benign Senior-Loken syndrome 5 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.
Invitae RCV000860442 SCV001000497 benign Nephronophthisis 2024-01-31 criteria provided, single submitter clinical testing
Mendelics RCV000987308 SCV001136572 benign Senior-Loken syndrome 5 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV001636756 SCV001852284 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000987308 SCV001981486 benign Senior-Loken syndrome 5 2021-08-19 criteria provided, single submitter clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000245543 SCV001959671 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000245543 SCV001974416 benign not specified no assertion criteria provided clinical testing

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