ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.2992G>A (p.Gly998Arg)

gnomAD frequency: 0.00003  dbSNP: rs747569209
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000823925 SCV000964799 benign Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2023-12-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002434028 SCV002750706 likely benign Inborn genetic diseases 2021-06-07 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics RCV000823925 SCV002779499 uncertain significance Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2022-03-07 criteria provided, single submitter clinical testing

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