ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.3041-4C>T

gnomAD frequency: 0.00001  dbSNP: rs945997134
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000649996 SCV000771833 likely benign Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2023-10-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002442344 SCV002752866 uncertain significance Inborn genetic diseases 2020-03-04 criteria provided, single submitter clinical testing The c.3041-4C>T intronic variant results from a C to T substitution 4 nucleotides upstream from coding exon 20 in the INF2 gene. This nucleotide position is well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this splice acceptor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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