ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.4826G>A (p.Arg1609Gln)

gnomAD frequency: 0.00001  dbSNP: rs1380878336
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Biology Laboratory, Fundació Puigvert RCV001029796 SCV001425008 likely pathogenic Autosomal dominant Alport syndrome 2020-02-01 criteria provided, single submitter research
Center of Genomic medicine, Geneva, University Hospital of Geneva RCV001029796 SCV001739310 likely pathogenic Autosomal dominant Alport syndrome 2021-02-09 criteria provided, single submitter clinical testing
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV001029796 SCV001192575 uncertain significance Autosomal dominant Alport syndrome 2019-06-03 no assertion criteria provided clinical testing

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