ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.2746+1G>T

dbSNP: rs1574786225
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000995513 SCV001149716 pathogenic Autosomal recessive Alport syndrome 2018-11-12 criteria provided, single submitter clinical testing
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV003483750 SCV004229100 pathogenic Autosomal dominant Alport syndrome 2023-03-23 criteria provided, single submitter clinical testing

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