ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.2125+14T>A

gnomAD frequency: 0.00014  dbSNP: rs563131123
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002215729 SCV002373678 likely benign not provided 2024-06-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498266 SCV002804917 likely benign Autosomal dominant Alport syndrome; Autosomal recessive Alport syndrome; Benign familial hematuria 2022-05-17 criteria provided, single submitter clinical testing

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