ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.3922G>A (p.Gly1308Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine RCV002466316 SCV002761271 likely pathogenic Brain small vessel disease 1 with or without ocular anomalies 2022-02-03 criteria provided, single submitter clinical testing

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