ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.3747G>A (p.Gln1249=)

gnomAD frequency: 0.00036  dbSNP: rs149939482
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000243080 SCV000314109 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001520465 SCV001729569 benign Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2024-01-02 criteria provided, single submitter clinical testing

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