ClinVar Miner

Submissions for variant NM_001270974.2(HYDIN):c.12130-5G>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004818933 SCV005438917 uncertain significance Primary ciliary dyskinesia 5 criteria provided, single submitter clinical testing The observed splice region variant c.12130-5G>C in the HYDIN gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is reported with the allele frequency 0.001% in the gnomAD Exomes. This splice region variant in intron 71 affects the position five nucleotides upstream of exon 72. For these reasons, this variant has been classified as Uncertain Significance VUS.

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