ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.1257T>C (p.Pro419=) (rs995224)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000336377 SCV000677149 benign Brain small vessel disease with hemorrhage 2017-06-02 criteria provided, single submitter clinical testing
GeneDx RCV000253414 SCV000729335 benign not specified 2017-11-14 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 RCV000295386 SCV000382487 benign Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000336377 SCV000382488 benign Brain small vessel disease with hemorrhage 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000397017 SCV000382489 benign Porencephalic cyst 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000253414 SCV000308110 benign not specified criteria provided, single submitter clinical testing

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