ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.10691+2T>C (rs886039341)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000254927 SCV000321559 uncertain significance not provided 2019-04-30 criteria provided, single submitter clinical testing Canonical splice site variant predicted to result in an in-frame deletion of exon(s) [3523-3564]; This variant is associated with the following publications: (PMID: 26633542)
Illumina Clinical Services Laboratory,Illumina RCV000778827 SCV000915218 uncertain significance Ciliary dyskinesia, primary, 7 2017-10-02 criteria provided, single submitter clinical testing The DNAH11 c.10691+2T>C variant occurs in a canonical splice site (donor) and is therefore predicted to disrupt or distort the normal gene product. It was observed by ICSL as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018) and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score for this variant, it could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene and cDNA change. No publications were found based on this search. Due to the potential impact of splice donor variants and the lack of clarifying evidence, this variant is classified as a variant of unknown significance but suspicious for primary ciliary dyskinesia.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000778827 SCV001164095 pathogenic Ciliary dyskinesia, primary, 7 2020-02-27 criteria provided, single submitter clinical testing

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