ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.2621del (p.Gly874fs)

dbSNP: rs759043857
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Genetics, University of Parma RCV001089909 SCV001245142 likely pathogenic Autosomal recessive Alport syndrome 2020-03-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001536013 SCV001752693 likely pathogenic Autosomal dominant Alport syndrome; Autosomal recessive Alport syndrome; Benign familial hematuria 2021-06-30 criteria provided, single submitter clinical testing
Sydney Genome Diagnostics, Children's Hospital Westmead RCV001328054 SCV001449241 pathogenic Nephrotic syndrome 2018-03-06 no assertion criteria provided clinical testing

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