ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.1864C>G (p.Arg622Gly) (rs539256832)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000597249 SCV000704002 uncertain significance not provided 2016-12-20 criteria provided, single submitter clinical testing
Invitae RCV001086165 SCV001013046 likely 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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