ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.4130G>A (p.Arg1377Gln)

gnomAD frequency: 0.00001  dbSNP: rs559719653
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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, University of Leipzig Medical Center RCV001262390 SCV001440237 uncertain significance Autosomal recessive Alport syndrome 2019-01-01 criteria provided, single submitter clinical testing
Institute of Human Genetics, University Hospital Muenster RCV003128565 SCV003804804 uncertain significance See cases 2023-02-17 criteria provided, single submitter clinical testing ACMG categories: BS2

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