ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.11583C>A (p.Ser3861Arg) (rs576096758)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000439859 SCV000520925 uncertain significance not provided 2020-12-03 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 26228299, 22416021, 27637300)
Illumina Clinical Services Laboratory,Illumina RCV001155590 SCV001317028 uncertain significance Ciliary dyskinesia, primary, 3 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001155590 SCV001369859 uncertain significance Ciliary dyskinesia, primary, 3 2020-03-12 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence favors the pathogenic nature of this variant, however the currently available data is insufficient to conclusively support its pathogenic nature. Thus this variant is classified as Uncertain significance - favor pathogenic. The following ACMG criteria were applied in classifying this variant: PP3.
Nilou-Genome Lab RCV001155590 SCV001716349 uncertain significance Ciliary dyskinesia, primary, 3 2021-05-18 criteria provided, single submitter clinical testing

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