ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.3183G>A (p.Gly1061=) (rs874204)

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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 RCV000247662 SCV000308117 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000401840 SCV000382409 benign Porencephalic cyst 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000312646 SCV000382410 benign Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000356008 SCV000382411 benign Brain small vessel disease with hemorrhage 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000356008 SCV000677154 benign Brain small vessel disease with hemorrhage 2017-06-01 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000247662 SCV000706365 benign not specified 2017-02-17 criteria provided, single submitter clinical testing
GeneDx RCV000247662 SCV000729459 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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