ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.2367G>A (p.Thr789=)

gnomAD frequency: 0.00011  dbSNP: rs368194536
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001463925 SCV001667879 likely benign Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2022-08-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001463925 SCV002806532 likely benign Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2021-08-12 criteria provided, single submitter clinical testing

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