ClinVar Miner

Submissions for variant NM_014425.5(INVS):c.-110T>G

gnomAD frequency: 0.17693  dbSNP: rs7024375
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000342643 SCV000475954 benign Infantile nephronophthisis 2018-03-06 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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000454990 SCV000539390 benign not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency in 1000Genomes: 634/2178=29.1%
Eurofins Ntd Llc (ga) RCV000454990 SCV000701207 benign not specified 2016-12-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001517971 SCV001726586 benign Nephronophthisis 2024-01-29 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294323 SCV002587737 benign Kidney disorder 2019-08-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004712660 SCV005265725 benign not provided criteria provided, single submitter not provided

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