ClinVar Miner

Submissions for variant NM_003611.3(OFD1):c.614_617del (p.Arg205fs)

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Total submissions: 2
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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 RCV003990328 SCV004806842 likely pathogenic Orofaciodigital syndrome I 2024-03-26 criteria provided, single submitter clinical testing
GeneDx RCV004701899 SCV005201702 pathogenic not provided 2023-07-26 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay 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: 23033313)

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