ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.2410G>A (p.Val804Met)

gnomAD frequency: 0.00002  dbSNP: rs199979156
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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 RCV001060682 SCV001225386 likely benign Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2023-07-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001060682 SCV005637073 uncertain significance Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2024-03-06 criteria provided, single submitter clinical testing

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