Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Genomics, |
RCV000767975 | SCV000898710 | uncertain significance | Leukocyte adhesion deficiency 3 | 2021-03-30 | criteria provided, single submitter | clinical testing | FERMT3 NM_178443 exon 3 p.Arg111Cys (c.331C>T): This variant has not been reported in the literature but is present in 0.3% (90/23962) of African alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs140328152). Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |
Invitae | RCV000767975 | SCV001118338 | likely benign | Leukocyte adhesion deficiency 3 | 2024-01-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002536597 | SCV003676400 | uncertain significance | Inborn genetic diseases | 2022-02-10 | criteria provided, single submitter | clinical testing | The c.331C>T (p.R111C) alteration is located in exon 3 (coding exon 2) of the FERMT3 gene. This alteration results from a C to T substitution at nucleotide position 331, causing the arginine (R) at amino acid position 111 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |