ClinVar Miner

Submissions for variant NM_000092.4(COL4A4):c.4185G>A (p.Gly1395=) (rs55978207)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000727472 SCV000708824 uncertain significance not provided 2017-05-26 criteria provided, single submitter clinical testing
GeneDx RCV000595854 SCV000725962 likely benign not specified 2018-01-11 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 RCV000727472 SCV001052404 likely benign not provided 2020-11-26 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271497 SCV001452700 likely benign Alport syndrome 2019-11-11 no assertion criteria provided clinical testing

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