ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.1547C>T (p.Pro516Leu) (rs111589086)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000591895 SCV000707659 benign not specified 2017-04-07 criteria provided, single submitter clinical testing
GeneDx RCV000591895 SCV000714022 benign not specified 2017-04-04 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 RCV000861111 SCV001001334 benign Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease, dominant intermediate E 2019-12-31 criteria provided, single submitter clinical testing

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