ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.2490-15C>A

gnomAD frequency: 0.00001  dbSNP: rs775068618
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001925 SCV001159685 likely benign not specified 2019-04-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002068784 SCV002459534 likely benign Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2024-12-02 criteria provided, single submitter clinical testing

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