ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.4808T>C (p.Met1603Thr)

gnomAD frequency: 0.00001  dbSNP: rs377058706
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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 RCV003336370 SCV004045913 likely pathogenic Autosomal recessive Alport syndrome 2022-12-22 criteria provided, single submitter clinical testing
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV001280823 SCV001468163 pathogenic Autosomal dominant Alport syndrome 2019-12-30 no assertion criteria provided clinical testing

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