ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.3016C>T (p.Leu1006Phe)

gnomAD frequency: 0.00001  dbSNP: rs1877889898
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV002246276 SCV001469170 likely pathogenic Brain small vessel disease 1 with or without ocular anomalies 2020-02-05 no assertion criteria provided clinical testing

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