Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002202536 | SCV002359551 | likely benign | not provided | 2023-12-21 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003418365 | SCV004106411 | uncertain significance | KMT2A-related disorder | 2023-06-02 | criteria provided, single submitter | clinical testing | The KMT2A c.3722G>C variant is predicted to result in the amino acid substitution p.Ser1241Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.044% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/11-118352517-G-C). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |