ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.2185G>C (p.Gly729Arg)

dbSNP: rs1594555106
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV002249490 SCV000928353 likely pathogenic Brain small vessel disease 1 with or without ocular anomalies 2018-05-07 criteria provided, single submitter clinical testing PS2, PM2,PP2,PP3

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