ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.3189A>T (p.Arg1063=) (rs874203)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000252826 SCV000308118 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000402267 SCV000382406 benign Porencephalic cyst 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000295246 SCV000382407 benign Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000352486 SCV000382408 benign Brain small vessel disease with hemorrhage 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000352486 SCV000677155 benign Brain small vessel disease with hemorrhage 2017-06-01 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000252826 SCV000706366 benign not specified 2017-02-17 criteria provided, single submitter clinical testing
GeneDx RCV000252826 SCV000729460 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.

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