ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.2788C>G (p.Arg930Gly)

dbSNP: rs764687744
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002040587 SCV002306314 likely benign Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2024-02-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002040587 SCV002815940 uncertain significance Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2021-07-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003992604 SCV004811100 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing INF2: BP4

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