ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.1769G>A (p.Gly590Glu)

dbSNP: rs113994107
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005007919 SCV005632429 uncertain significance Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome; Brain small vessel disease 1 with or without ocular anomalies; Hemorrhage, intracerebral, susceptibility to; Retinal arterial tortuosity; Microangiopathy and leukoencephalopathy, pontine, autosomal dominant 2024-04-08 criteria provided, single submitter clinical testing
GeneReviews RCV002247408 SCV000055809 not provided Brain small vessel disease 1 with or without ocular anomalies no assertion provided literature only

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