ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.3403A>G (p.Ile1135Val) (rs747614562)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000964775 SCV001112015 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Medical Genetics, University of Parma RCV001089923 SCV001245124 uncertain significance Alport syndrome 1, X-linked recessive 2020-03-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001089923 SCV001465822 likely benign Alport syndrome 1, X-linked recessive 2020-09-09 no assertion criteria provided clinical testing

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