ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.324+20T>C

gnomAD frequency: 0.00006  dbSNP: rs764072918
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002220928 SCV002367680 likely benign not provided 2024-09-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498245 SCV002807881 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 2022-02-09 criteria provided, single submitter clinical testing

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