ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.1588C>T (p.Pro530Ser) (rs145172612)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000176542 SCV000228217 uncertain significance not provided 2015-01-27 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000264390 SCV000382478 uncertain significance Acquired porencephaly 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000323259 SCV000382479 benign Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 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.
Illumina Clinical Services Laboratory,Illumina RCV000363915 SCV000382480 benign Brain small vessel disease 1 with or without ocular anomalies 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.
Fulgent Genetics,Fulgent Genetics RCV000763877 SCV000894812 uncertain significance Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps; Brain small vessel disease with hemorrhage; Brain small vessel disease 1 with or without ocular anomalies; SCHIZENCEPHALY; Hemorrhage, intracerebral, susceptibility to; Retinal arteries, tortuosity of 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000176542 SCV001106714 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000176542 SCV001335005 likely benign not provided 2020-02-01 criteria provided, single submitter clinical testing

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