ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.1055C>T (p.Pro352Leu) (rs200786329)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000710795 SCV000841099 uncertain significance not provided 2018-03-08 criteria provided, single submitter clinical testing
Invitae RCV000710795 SCV001091527 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000989165 SCV001139385 benign Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 2019-05-28 criteria provided, single submitter clinical testing
OMIM RCV000033090 SCV000056870 risk factor Hemorrhage, intracerebral, susceptibility to 2012-04-01 no assertion criteria provided literature only

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