Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001229267 | SCV001401708 | likely benign | Luscan-Lumish syndrome | 2023-11-27 | criteria provided, single submitter | clinical testing | |
New York Genome Center | RCV001229267 | SCV002025662 | uncertain significance | Luscan-Lumish syndrome | 2020-04-25 | criteria provided, single submitter | clinical testing | The p.Ser2452Leu variant identified in SETD2 has not been reported in affected individuals in the literature. The variant has 0.0000278 allele frequency in gnomAD database (7 out of 251,388 heterozygous alleles) indicating it is a rare allele in general population. The variant affects an evolutionarily conserved residue and is predicted deleterious by multiple in silico prediction tools. Based on the current evidence, the p.Ser2452Leu variant in the SETD2 gene is assessed as a variant of uncertain significance. |
Genome- |
RCV001229267 | SCV002555331 | uncertain significance | Luscan-Lumish syndrome | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002563159 | SCV003597454 | uncertain significance | Inborn genetic diseases | 2022-07-12 | criteria provided, single submitter | clinical testing | Unlikely to be causative of Luscan-Lumish syndrome (AD) Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |