ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.1643G>A (p.Arg548His) (rs35433555)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001080011 SCV000260347 benign Joubert syndrome 2020-12-07 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000116285 SCV000312861 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000116285 SCV000511997 benign not specified 2016-04-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Athena Diagnostics Inc RCV000206565 SCV001144287 benign not provided 2019-08-13 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001154713 SCV001316093 benign Joubert syndrome 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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Genetic Services Laboratory, University of Chicago RCV000116285 SCV000150203 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000206565 SCV001800538 likely benign not provided no assertion criteria provided clinical testing

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