ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.2595-9C>T

gnomAD frequency: 0.00015  dbSNP: rs369966222
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001720247 SCV000526759 likely benign not provided 2021-08-25 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768003 SCV000898780 uncertain significance Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2021-03-30 criteria provided, single submitter clinical testing KCNT1 NM_020822 exon 23 c.2595-9C>T: This variant has not been reported in the literature but is present in 14/23932 African alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs369966222). This variant is present in ClinVar (Variation ID:385486). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant is an intronic variant with no predicted change in the amino acid sequence but may have an unknown effect on splicing. Further studies are needed to understand its impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp RCV000768003 SCV001002440 likely benign Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2024-01-29 criteria provided, single submitter clinical testing

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