ClinVar Miner

Submissions for variant NM_001023570.4(IQCB1):c.1303C>T (p.Arg435Cys)

gnomAD frequency: 0.01165  dbSNP: rs11920543
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000203978 SCV000259434 benign Nephronophthisis 2024-01-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000333367 SCV000440021 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.
GeneDx RCV001636722 SCV001852347 benign not provided 2020-08-31 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001699233 SCV001926366 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001699233 SCV001965181 benign not specified no assertion criteria provided clinical testing

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