ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.489C>T (p.Asp163=)

gnomAD frequency: 0.00001  dbSNP: rs769080446
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000252204 SCV000314114 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV001457259 SCV001661058 likely benign Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2023-01-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002328749 SCV002634560 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 RCV001457259 SCV002797207 likely benign Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2022-03-15 criteria provided, single submitter clinical testing

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