ClinVar Miner

Submissions for variant NM_000091.4(COL4A3):c.3546_3548dup (p.Gly1183dup) (rs1175052474)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000626593 SCV000747294 pathogenic Proteinuria; Microscopic hematuria; Microalbuminuria 2017-01-01 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000626594 SCV000747295 likely pathogenic Macroscopic hematuria 2017-01-01 criteria provided, single submitter clinical testing
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare RCV000505632 SCV000599808 likely pathogenic Alport syndrome 3, autosomal dominant 2017-04-20 no assertion criteria provided clinical testing
Gharavi Laboratory,Columbia University RCV000681705 SCV000809157 likely pathogenic not provided 2018-09-16 no assertion criteria provided research

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