ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.3672del (p.Pro1226fs)

dbSNP: rs2073096212
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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 RCV001198013 SCV001368798 likely pathogenic Autosomal dominant Alport syndrome 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM.

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