ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.273-357C>G

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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 RCV004635639 SCV005121066 uncertain significance Inborn genetic diseases 2024-03-29 criteria provided, single submitter clinical testing The c.290C>G (p.S97C) alteration is located in exon 5 (coding exon 5) of the IFT122 gene. This alteration results from a C to G substitution at nucleotide position 290, causing the serine (S) at amino acid position 97 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005038752 SCV005659493 uncertain significance Cranioectodermal dysplasia 1 2024-03-21 criteria provided, single submitter clinical testing

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