ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.859-8_859del

gnomAD frequency: 0.00003  dbSNP: rs1360123079
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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 RCV005010729 SCV005632472 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 2024-03-06 criteria provided, single submitter clinical testing
Gharavi Laboratory, Columbia University RCV000722254 SCV000853385 uncertain significance not provided 2018-09-16 no assertion criteria provided research

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