ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.3722A>G (p.Lys1241Arg)

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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 RCV003783808 SCV004571557 likely benign Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2024-05-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV003783808 SCV005637127 uncertain significance Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2024-06-11 criteria provided, single submitter clinical testing

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