ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.1736-9_1736-7dup

dbSNP: rs2140671935
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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 RCV001961762 SCV002256491 likely benign Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2024-01-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001961762 SCV005637053 uncertain significance Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2024-05-23 criteria provided, single submitter clinical testing

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