ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.639G>A (p.Ala213=)

gnomAD frequency: 0.00031  dbSNP: rs149858291
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000960341 SCV001107309 likely benign Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2023-11-08 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV001289057 SCV001476615 benign not specified 2019-10-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003943100 SCV004760788 likely benign INF2-related condition 2019-12-19 criteria provided, single submitter 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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