ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.2746+17C>T

gnomAD frequency: 0.00001  dbSNP: rs765408537
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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 RCV000626592 SCV000747293 uncertain significance Hematuria 2017-01-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002060703 SCV002492357 likely benign not provided 2021-11-17 criteria provided, single submitter clinical testing

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