ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.4316-20T>A

dbSNP: rs2068567564
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Biology Laboratory, Fundació Puigvert RCV001281232 SCV001425055 likely pathogenic X-linked Alport syndrome 2020-02-01 criteria provided, single submitter research
Prenatal Diagnosis Center, Inner Mongolia Medical University RCV001281232 SCV002584997 pathogenic X-linked Alport syndrome 2021-01-08 no assertion criteria provided clinical testing

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