ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.1555G>A (p.Gly519Arg)

dbSNP: rs113994105
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000018962 SCV000039249 pathogenic Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome 2007-12-27 no assertion criteria provided literature only
GeneReviews RCV000018962 SCV000055807 not provided Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome no assertion provided literature only

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