ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.3055G>C (p.Glu1019Gln)

dbSNP: rs1057518854
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000415007 SCV000492747 uncertain significance Stage 5 chronic kidney disease; Hyperkalemia; Thrombocytopenia; Hypertensive disorder 2015-06-16 criteria provided, single submitter clinical testing

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