ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.3170T>C (p.Ile1057Thr)

gnomAD frequency: 0.00015  dbSNP: rs569940067
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000710801 SCV000841105 uncertain significance not provided 2018-03-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000710801 SCV002383907 likely benign not provided 2024-12-02 criteria provided, single submitter clinical testing
Daryl Scott Lab, Baylor College of Medicine RCV003221303 SCV003915715 uncertain significance Brain small vessel disease 1 with or without ocular anomalies 2023-04-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005010718 SCV005632885 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 2024-02-16 criteria provided, single submitter clinical testing
Daryl Scott Lab, Baylor College of Medicine RCV005223134 SCV005871319 uncertain significance COL4A1-related disorder 2024-01-01 criteria provided, single submitter clinical testing PP3

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