ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.1987C>T (p.Pro663Ser)

dbSNP: rs747891356
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV001353237 SCV001548380 uncertain significance Autosomal dominant Alport syndrome 2020-11-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002504568 SCV002816328 uncertain significance Autosomal dominant Alport syndrome; Autosomal recessive Alport syndrome; Benign familial hematuria 2021-09-15 criteria provided, single submitter clinical testing

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