ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.934-6C>A

gnomAD frequency: 0.00004  dbSNP: rs369438839
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000899032 SCV001043274 likely benign not provided 2024-01-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502643 SCV002813771 likely benign Autosomal dominant Alport syndrome; Autosomal recessive Alport syndrome; Benign familial hematuria 2021-09-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003975707 SCV004788972 likely benign COL4A3-related disorder 2022-12-20 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001274579 SCV001458836 uncertain significance Alport syndrome 2020-01-24 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000899032 SCV001928074 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000899032 SCV001953538 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000899032 SCV001970571 likely benign not provided no assertion criteria provided clinical testing

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