ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.3673C>T (p.Arg1225Cys)

dbSNP: rs779017318
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001202750 SCV001373876 benign Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2024-11-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001202750 SCV005637124 uncertain significance Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2024-03-18 criteria provided, single submitter clinical testing

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