ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.3682G>C (p.Gly1228Arg)

dbSNP: rs1559913871
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV000761269 SCV000891227 likely pathogenic Autosomal recessive Alport syndrome 2018-01-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500988 SCV002809364 likely pathogenic Autosomal dominant Alport syndrome; Autosomal recessive Alport syndrome; Benign familial hematuria 2021-07-09 criteria provided, single submitter clinical testing

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