Total submissions: 13
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000121371 | SCV000193423 | likely benign | not specified | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Center for Pediatric Genomic Medicine, |
RCV000224720 | SCV000281048 | benign | not provided | 2015-12-21 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000121371 | SCV000309612 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Eurofins Ntd Llc |
RCV000121371 | SCV000336276 | benign | not specified | 2015-10-13 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000345406 | SCV001012700 | benign | Kabuki syndrome | 2025-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000224720 | SCV001869773 | benign | not provided | 2019-08-22 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002505063 | SCV002795463 | benign | Kabuki syndrome 1 | 2021-09-16 | criteria provided, single submitter | clinical testing | |
Center for Genomics, |
RCV003224158 | SCV003920133 | likely benign | Kabuki syndrome 1; Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome | 2022-07-25 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature but is present in the Genome Aggregation Database (Highest reported MAF 0.5% (677/117374) including 3 homozygotes (https://gnomad.broadinstitute.org/variant/12-49445392-G-T?dataset=gnomad_r2_1). This variant is present in ClinVar, with several labs classifying this variant as Likely Benign or Benign (Variation ID:134664). Evolutionary conservation and computational predictive tools suggest that this variant may not impact the protein. In summary, data on this variant suggests that this variant does not cause disease but requires further evidence. Therefore, this variant is classified as likely benign. |
Ce |
RCV000224720 | SCV004130823 | benign | not provided | 2024-09-01 | criteria provided, single submitter | clinical testing | KMT2D: BP4, BS1, BS2 |
Breakthrough Genomics, |
RCV000224720 | SCV005213086 | likely benign | not provided | criteria provided, single submitter | not provided | ||
ITMI | RCV000121371 | SCV000085553 | not provided | not specified | 2013-09-19 | no assertion provided | reference population | |
Laboratory of Diagnostic Genome Analysis, |
RCV000224720 | SCV001799218 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000224720 | SCV001973813 | likely benign | not provided | no assertion criteria provided | clinical testing |