ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.2556C>T (p.Gly852=)

gnomAD frequency: 0.00001  dbSNP: rs1474061940
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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 RCV001890812 SCV002161178 likely benign not provided 2024-02-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005002636 SCV005632903 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 2024-03-22 criteria provided, single submitter clinical testing

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