ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.3407G>A (p.Arg1136Gln)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004626345 SCV005121065 uncertain significance Inborn genetic diseases 2024-05-12 criteria provided, single submitter clinical testing The c.3560G>A (p.R1187Q) alteration is located in exon 29 (coding exon 29) of the IFT122 gene. This alteration results from a G to A substitution at nucleotide position 3560, causing the arginine (R) at amino acid position 1187 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005023608 SCV005661427 uncertain significance Cranioectodermal dysplasia 1 2024-05-17 criteria provided, single submitter clinical testing

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