ClinVar Miner

Submissions for variant NM_014425.5(INVS):c.1235-5T>C

gnomAD frequency: 0.30271  dbSNP: rs2245216
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081626 SCV000113557 benign not specified 2014-04-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000081626 SCV000312172 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000614966 SCV000475962 benign Infantile nephronophthisis 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 RCV000614966 SCV000744360 benign Infantile nephronophthisis 2015-09-21 criteria provided, single submitter clinical testing
Invitae RCV000333501 SCV001000067 benign Nephronophthisis 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001705759 SCV001832948 benign not provided 2019-05-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000614966 SCV001981484 benign Infantile nephronophthisis 2021-08-19 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000614966 SCV000734625 benign Infantile nephronophthisis no assertion criteria provided clinical testing

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