ClinVar Miner

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

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000245629 SCV000612931 benign not specified 2017-07-11 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
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.
Illumina Clinical Services Laboratory,Illumina RCV000391710 SCV000382475 benign Brain small vessel disease with hemorrhage 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000299532 SCV000382476 benign Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000359055 SCV000382477 benign Porencephalic cyst 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000245629 SCV000308111 benign not specified criteria provided, single submitter clinical testing

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