ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.716dup (p.Pro240fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV004549019 SCV005043267 pathogenic Alport syndrome 3b, autosomal recessive 2024-05-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005023569 SCV005655846 likely pathogenic Autosomal dominant Alport syndrome; Hematuria, benign familial, 2; Alport syndrome 3b, autosomal recessive 2024-04-20 criteria provided, single submitter clinical testing

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