ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.2184C>T (p.Ala728=)

gnomAD frequency: 0.00004  dbSNP: rs564499884
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000649987 SCV000771824 likely benign Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2023-05-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002424519 SCV002730137 likely benign Inborn genetic diseases 2019-07-11 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 RCV000649987 SCV002802648 likely benign Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2021-08-19 criteria provided, single submitter clinical testing

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