ClinVar Miner

Submissions for variant NM_012472.6(DNAAF11):c.574C>G (p.Gln192Glu)

dbSNP: rs141945265
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000650330 SCV000772173 likely benign Primary ciliary dyskinesia 19 2019-12-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000650330 SCV001326886 uncertain significance Primary ciliary dyskinesia 19 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx RCV001565975 SCV001789433 uncertain significance not provided 2022-05-13 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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