ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.2629C>T (p.Arg877Cys)

gnomAD frequency: 0.00002  dbSNP: rs773080594
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000380898 SCV000440838 uncertain significance Cranioectodermal dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488741 SCV002799760 uncertain significance Cranioectodermal dysplasia 1 2022-04-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV004629195 SCV005121063 uncertain significance Inborn genetic diseases 2024-04-29 criteria provided, single submitter clinical testing The c.2782C>T (p.R928C) alteration is located in exon 22 (coding exon 22) of the IFT122 gene. This alteration results from a C to T substitution at nucleotide position 2782, causing the arginine (R) at amino acid position 928 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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