ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.354C>T (p.Ile118=)

gnomAD frequency: 0.00008  dbSNP: rs771038193
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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 RCV000875738 SCV001018207 likely benign Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2025-01-15 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294393 SCV002587390 likely benign Focal segmental glomerulosclerosis 2019-08-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000875738 SCV002805812 likely benign Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2021-12-08 criteria provided, single submitter clinical testing

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