ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.2839G>A (p.Glu947Lys)

gnomAD frequency: 0.00001  dbSNP: rs1182433339
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001308863 SCV001498337 benign Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2022-12-06 criteria provided, single submitter clinical testing

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