ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.1881A>G (p.Gly627=)

gnomAD frequency: 0.00011  dbSNP: rs202093478
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000954351 SCV001100979 benign not provided 2024-01-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488038 SCV002795736 likely benign 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 2022-01-08 criteria provided, single submitter clinical testing

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