ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.3403A>G (p.Ile1135Val)

gnomAD frequency: 0.00007  dbSNP: rs747614562
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000964775 SCV001112015 benign not provided 2023-12-13 criteria provided, single submitter clinical testing
Medical Genetics, University of Parma RCV001089923 SCV001245124 uncertain significance X-linked Alport syndrome 2020-03-11 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001089923 SCV002047708 likely benign X-linked Alport syndrome 2020-12-11 criteria provided, single submitter clinical testing
GeneDx RCV000964775 SCV002504573 likely benign not provided 2020-01-14 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Natera, Inc. RCV001089923 SCV001465822 likely benign X-linked Alport syndrome 2020-09-09 no assertion criteria provided clinical testing

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