ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.1555C>A (p.Pro519Thr)

gnomAD frequency: 0.00001  dbSNP: rs763374096
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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 RCV003802540 SCV004605742 benign Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2024-06-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV003802540 SCV005637045 uncertain significance Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2024-04-10 criteria provided, single submitter clinical testing

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