ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.3614G>T (p.Gly1205Val)

dbSNP: rs1556446493
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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 RCV000626981 SCV000747684 pathogenic Microscopic hematuria; Elevated mean arterial pressure; Chronic kidney disease 2017-01-01 criteria provided, single submitter clinical testing

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