ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.488T>C (p.Met163Thr) (rs142503631)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000615013 SCV000717296 likely benign not specified 2017-03-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000913619 SCV001058772 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare RCV000256382 SCV000323162 uncertain significance Alport syndrome 1, X-linked recessive no assertion criteria provided clinical testing

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