ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.4887C>G (p.Tyr1629Ter)

dbSNP: rs542803991
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV002246309 SCV001520118 pathogenic Brain small vessel disease 1 with or without ocular anomalies 2020-01-14 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].

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