Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000482618 | SCV000568253 | pathogenic | not provided | 2023-06-16 | 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); This variant is associated with the following publications: (PMID: 34486251, 22544363, 26293599, 25533962, 28191890, 26306646, 31785789, 27535533) |
Neuberg Supratech Reference Laboratories Pvt Ltd, |
RCV000024374 | SCV004100545 | pathogenic | Koolen-de Vries syndrome | criteria provided, single submitter | clinical testing | The c.1652+1G>A variant in the KANSL1 gene has been reported previously in association with Koolen-de Vries syndrome (Koolen et al., 2012). The c.1652+1G>A variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. This variant mutates a splice-donor sequence, potentially resulting in the retention of large segments of intronic DNA by the mRNA and nonfunctional proteins. For these reasons, this variant has been classified as Pathogenic. | |
OMIM | RCV000024374 | SCV000045667 | pathogenic | Koolen-de Vries syndrome | 2012-04-29 | no assertion criteria provided | literature only | |
Gene |
RCV000024374 | SCV000055760 | not provided | Koolen-de Vries syndrome | no assertion provided | literature only |