ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.1469C>G (p.Pro490Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005007091 SCV005637044 uncertain significance Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2024-06-10 criteria provided, single submitter clinical testing

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