ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.986-9C>G

gnomAD frequency: 0.00001  dbSNP: rs761206810
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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 RCV001235972 SCV001408682 likely benign Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2024-03-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001235972 SCV002789850 uncertain significance Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2022-05-10 criteria provided, single submitter clinical testing

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