ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.536G>C (p.Gly179Ala)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003489342 SCV004238548 likely pathogenic not provided 2023-06-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005003655 SCV005632481 likely pathogenic 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 2024-03-06 criteria provided, single submitter clinical testing

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