ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.2673G>A (p.Gln891=)

gnomAD frequency: 0.00011  dbSNP: rs373448935
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000169961 SCV000226770 likely benign not specified 2016-04-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000539050 SCV000639473 likely benign Developmental and epileptic encephalopathy, 2; Angelman syndrome-like 2024-11-19 criteria provided, single submitter clinical testing
GeneDx RCV001706103 SCV001890676 likely benign not provided 2020-04-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001706103 SCV005209114 likely benign not provided criteria provided, single submitter not provided
Centre for Population Genomics, CPG RCV004724968 SCV005335155 benign CDKL5 disorder 2024-07-02 criteria provided, single submitter curation This variant has been collected from RettBASE and curated to current modified ACMG/AMP criteria. Based on the classification scheme defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like Disorders Specifications to the ACMG/AMP Variant Interpretation Guidelines VCEP 3.0, this variant is classified as benign. At least the following criteria are met: The allele frequency of this variant in at least one population in gnomAD v3 is higher than the 0.03% threshold defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like Disorders VCEP 3.0 (BA1).
RettBASE RCV000169961 SCV000222262 benign not specified 2014-05-15 no assertion criteria provided curation

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