ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.4407T>C (p.Ser1469=)

gnomAD frequency: 0.00012  dbSNP: rs373720128
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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 RCV001398497 SCV001600269 likely benign not provided 2024-01-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499843 SCV002794698 likely benign Autosomal dominant Alport syndrome; Autosomal recessive Alport syndrome; Benign familial hematuria 2021-12-30 criteria provided, single submitter clinical testing

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