ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.4797G>A (p.Ala1599=) (rs146638269)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000244032 SCV000308128 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000310653 SCV000382310 likely benign Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000365207 SCV000382311 likely benign Porencephalic cyst 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000270597 SCV000382312 likely benign Brain small vessel disease with hemorrhage 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000877865 SCV001020669 likely benign not provided 2018-06-26 criteria provided, single submitter clinical testing

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