ClinVar Miner

Submissions for variant NM_024926.4(IFT56):c.4-1G>C

dbSNP: rs2130770516
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV001727916 SCV005038840 pathogenic Biliary, renal, neurologic, and skeletal syndrome 2024-03-14 criteria provided, single submitter clinical testing
GeneDx RCV004720929 SCV005328168 likely pathogenic not provided 2024-03-11 criteria provided, single submitter clinical testing Canonical splice site variant predicted to result in an in-frame loss of the adjacent exon in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 32552793, 31595528, 34177428)
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV001844310 SCV001870538 pathogenic Hydrocephalus 2021-04-29 no assertion criteria provided research
OMIM RCV001727916 SCV001976499 pathogenic Biliary, renal, neurologic, and skeletal syndrome 2021-10-04 no assertion criteria provided literature only

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