ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.1929C>T (p.Ile643=)

gnomAD frequency: 0.00026  dbSNP: rs756712490
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001520897 SCV001730110 benign Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2022-07-06 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294468 SCV002587431 likely benign Focal segmental glomerulosclerosis 2018-07-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003931127 SCV004746635 likely benign INF2-related disorder 2019-05-07 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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