ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.4851T>C (p.His1617=)

gnomAD frequency: 0.00001  dbSNP: rs74379096
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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 RCV001481589 SCV001685936 likely benign not provided 2024-02-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501661 SCV002813647 likely benign Autosomal dominant Alport syndrome; Autosomal recessive Alport syndrome; Benign familial hematuria 2021-12-29 criteria provided, single submitter clinical testing

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