ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.2263G>A (p.Gly755Arg) (rs672601346)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000710799 SCV000841103 pathogenic not provided 2018-05-14 criteria provided, single submitter clinical testing
Mendelics RCV000989163 SCV001139382 pathogenic Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 2019-05-28 criteria provided, single submitter clinical testing
OMIM RCV000149399 SCV000196039 pathogenic Brain small vessel disease 1 with or without ocular anomalies 2012-06-01 no assertion criteria provided literature only

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