ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.354C>T (p.Ile118=) (rs771038193)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000875738 SCV001018207 likely benign Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease, dominant intermediate E 2019-12-31 criteria provided, single submitter clinical testing

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