ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.1528G>A (p.Gly510Arg)

dbSNP: rs267606743
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000018967 SCV000039254 pathogenic Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome 2014-11-01 no assertion criteria provided literature only
OMIM RCV000170340 SCV000222748 pathogenic Retinal arterial tortuosity 2014-11-01 no assertion criteria provided literature only

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