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: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000710801 SCV000841105 uncertain significance not provided 2018-03-05 criteria provided, single submitter clinical testing
Invitae RCV000710801 SCV002383907 likely benign not provided 2023-12-15 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

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