ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.838G>A (p.Gly280Arg)

dbSNP: rs2070035662
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001197525 SCV001368304 likely pathogenic Autosomal dominant Alport syndrome 2019-11-29 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PM2,PP2,PP3,PM1.
Fulgent Genetics, Fulgent Genetics RCV005029741 SCV005655862 likely pathogenic Autosomal dominant Alport syndrome; Hematuria, benign familial, 2; Alport syndrome 3b, autosomal recessive 2024-05-06 criteria provided, single submitter clinical testing

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