ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.2489-1G>A (rs1574782406)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000991613 SCV001143221 likely pathogenic not provided 2018-09-21 criteria provided, single submitter clinical testing The variant disrupts a canonical splice site, and is therefore predicted to significantly disrupt the protein structure. Not found in the total gnomAD dataset, and the data is high quality (0/275976 chr).
Medical Genetics, University of Parma RCV001089907 SCV001245140 likely pathogenic Alport syndrome, autosomal recessive 2020-03-11 criteria provided, single submitter clinical testing

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