Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000560525 | SCV001912323 | benign | not provided | 2021-02-11 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV002060312 | SCV002353099 | benign | Kabuki syndrome | 2024-12-24 | criteria provided, single submitter | clinical testing | |
Center for Genomics, |
RCV003224324 | SCV003920131 | likely benign | Kabuki syndrome 1; Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome | 2022-07-12 | 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 0.004% (2/41430) (https://gnomad.broadinstitute.org/variant/12-49040198-C-T?dataset=gnomad_r3). This variant is present in ClinVar, with multiple labs classifying this variant as Benign (Variation ID:463021). Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. However, computational prediction tools suggest that this variant may affect splicing. However, further studies are needed to understand its impact. 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 |
RCV000560525 | SCV004130762 | likely benign | not provided | 2022-03-01 | criteria provided, single submitter | clinical testing | KMT2D: BP4, BP7 |
Prevention |
RCV004758702 | SCV005366217 | likely benign | KMT2D-related disorder | 2024-09-27 | no assertion criteria provided | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |