ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.1820C>T (p.Ala607Val)

gnomAD frequency: 0.00001  dbSNP: rs373916569
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Genetics, University of Parma RCV001089931 SCV001245132 uncertain significance Autosomal recessive Alport syndrome 2020-03-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002493367 SCV002784308 uncertain significance Autosomal recessive Alport syndrome; Benign familial hematuria 2021-12-12 criteria provided, single submitter clinical testing
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000735669 SCV000863811 uncertain significance Autosomal dominant Alport syndrome 2018-02-13 no assertion criteria provided clinical testing

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