ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.4235G>T (p.Gly1412Val)

dbSNP: rs2073446714
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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 RCV001089920 SCV001245153 pathogenic Autosomal dominant Alport syndrome; Benign familial hematuria 2020-03-11 criteria provided, single submitter clinical testing
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796364 SCV005416947 likely pathogenic Autosomal dominant Alport syndrome criteria provided, single submitter clinical testing PM2_Supporting+PP3_Strong+PS4_Supporting
Fulgent Genetics, Fulgent Genetics RCV005029684 SCV005656127 pathogenic Autosomal dominant Alport syndrome; Hematuria, benign familial, 2; Alport syndrome 3b, autosomal recessive 2024-01-09 criteria provided, single submitter clinical testing

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