ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.640C>T (p.Arg214Cys) (rs912928648)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare RCV000786896 SCV000925795 pathogenic Focal segmental glomerulosclerosis 5 2018-11-09 no assertion criteria provided clinical testing
Inherited Neuropathy Consortium RCV000790333 SCV000929743 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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