ClinVar Miner

Submissions for variant NM_016284.5(CNOT1):c.3265G>C (p.Val1089Leu)

dbSNP: rs2040438229
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001773568 SCV001993178 uncertain significance not provided 2019-08-16 criteria provided, single submitter clinical testing Not observed 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; This variant is associated with the following publications: (PMID: 32553196)
GenomeConnect, ClinGen RCV004545818 SCV001423367 not provided CNOT1-related disorder no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 09-24-2019 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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