ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.4449T>C (p.His1483=)

gnomAD frequency: 0.00007  dbSNP: rs777962282
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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 RCV002169241 SCV002475455 likely benign not provided 2025-01-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002481012 SCV002796269 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 2022-01-12 criteria provided, single submitter clinical testing

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