ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.145+1G>A

dbSNP: rs2147132274
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002249332 SCV002518649 pathogenic Developmental and epileptic encephalopathy, 2 2022-05-04 criteria provided, single submitter clinical testing
GeneDx RCV004763341 SCV005369602 pathogenic not provided 2024-04-04 criteria provided, single submitter clinical testing Canonical splice site variant predicted to result in a null allele in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

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