ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.6458A>G (p.Gln2153Arg) (rs534635095)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000408035 SCV000431922 uncertain significance Alstrom syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001699377 SCV001993036 uncertain significance not provided 2019-07-03 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); 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
Clinical Genetics,Academic Medical Center RCV001699377 SCV001923286 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001699377 SCV001927011 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001699377 SCV001970382 likely benign not provided no assertion criteria provided clinical testing

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