ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.2869G>A (p.Gly957Arg)

gnomAD frequency: 0.00001  dbSNP: rs984879135
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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 RCV001937084 SCV002225874 benign Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2024-04-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001937084 SCV002806233 uncertain significance Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2021-11-30 criteria provided, single submitter clinical testing

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