ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.1663= (p.Pro555=) (rs536174)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000245629 SCV000308111 benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000245629 SCV000334639 benign not specified 2015-08-27 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000391710 SCV000382475 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.
Illumina Clinical Services Laboratory,Illumina RCV000299532 SCV000382476 benign Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 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 Clinical Services Laboratory,Illumina RCV000359055 SCV000382477 benign Acquired porencephaly 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000245629 SCV000612931 benign not specified 2017-07-11 criteria provided, single submitter clinical testing
GeneDx RCV000245629 SCV000715679 benign not specified 2017-07-19 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.
Mendelics RCV000299532 SCV001139384 benign Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 2019-05-28 criteria provided, single submitter clinical testing

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