ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.2899A>G (p.Ile967Val)

gnomAD frequency: 0.01747  dbSNP: rs80243096
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Preventiongenetics, part of Exact Sciences RCV000251989 SCV000302106 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000352823 SCV000428088 benign Alport syndrome 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.
Athena Diagnostics Inc RCV000576420 SCV000677181 benign Autosomal recessive Alport syndrome 2017-06-01 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000251989 SCV000711822 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Ile967Val in exon 32 of COL4A4: This variant is not expected to have clinical significance because it has been identified in 4.54% (445/9802) of African chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs80243096).
GeneDx RCV000251989 SCV000716957 benign not specified 2017-09-27 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000962008 SCV001109070 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294113 SCV002587239 benign Focal segmental glomerulosclerosis 2022-09-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV000352823 SCV001464032 benign Alport syndrome 2020-09-16 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000251989 SCV001927173 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000962008 SCV001953073 likely benign not provided no assertion criteria provided clinical testing

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