ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.2130G>A (p.Pro710=) (rs16975492)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000250703 SCV000308115 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000342375 SCV000382448 benign Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000398706 SCV000382449 benign Porencephalic cyst 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000307335 SCV000382450 benign Brain small vessel disease with hemorrhage 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000307335 SCV000677152 benign Brain small vessel disease with hemorrhage 2017-06-01 criteria provided, single submitter clinical testing
GeneDx RCV000250703 SCV000729928 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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