ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.2641A>G (p.Met881Val)

gnomAD frequency: 0.00007  dbSNP: rs775563545
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001114942 SCV001272865 benign Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures 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.
Illumina Laboratory Services, Illumina RCV002249727 SCV001272866 benign Brain small vessel disease 1 with or without ocular anomalies 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.
Invitae RCV003718333 SCV004516188 benign not provided 2023-12-16 criteria provided, single submitter clinical testing
Yale Center for Mendelian Genomics, Yale University RCV001849473 SCV002106638 likely pathogenic Congenital anomaly of kidney and urinary tract 2019-06-22 no assertion criteria provided literature only

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