ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.4316-1G>T

dbSNP: rs281874734
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV001002780 SCV001160753 pathogenic X-linked Alport syndrome 2019-07-25 criteria provided, single submitter clinical testing
Molecular Biology Laboratory, Fundació Puigvert RCV001002780 SCV001425054 pathogenic X-linked Alport syndrome 2020-02-01 criteria provided, single submitter research

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