ClinVar Miner

Submissions for variant NM_001846.3(COL4A2):c.3448C>A (p.Gln1150Lys) (rs62621875)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000278505 SCV000382673 likely benign Porencephalic cyst 2016-06-14 criteria provided, single submitter clinical testing
OMIM RCV000022470 SCV000043759 risk factor Hemorrhage, intracerebral, susceptibility to 2012-01-13 no assertion criteria provided literature only

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