ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.3194A>C (p.Glu1065Ala)

gnomAD frequency: 0.00001  dbSNP: rs202244190
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000701216 SCV000830007 likely benign Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2022-11-22 criteria provided, single submitter clinical testing

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