ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.1493G>T (p.Gly498Val) (rs113994104)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000018961 SCV000039248 pathogenic Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 2007-12-27 no assertion criteria provided literature only
GeneReviews RCV000018961 SCV000055806 pathologic Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 2011-03-08 no assertion criteria provided curation Converted during submission to Pathogenic.

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