Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000194338 | SCV000247388 | uncertain significance | not specified | 2015-05-04 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002229018 | SCV000820601 | benign | Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Al Jalila Children's Genomics Center, |
RCV001731512 | SCV001984204 | uncertain significance | Heterotopia, periventricular, X-linked dominant | 2020-09-24 | criteria provided, single submitter | clinical testing | |
Institute for Clinical Genetics, |
RCV003237759 | SCV002011157 | uncertain significance | not provided | 2021-11-03 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV003237759 | SCV004564260 | uncertain significance | not provided | 2022-12-22 | criteria provided, single submitter | clinical testing | The FLNA c.1372G>A; p.Val458Ile variant (rs782791907), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 211011). This variant is only observed on two alleles in the Genome Aggregation Database, indicating it is not a common polymorphism. The valine at codon 458 is moderately conserved, and computational analyses predict that this variant is neutral (REVEL: 0.131). Due to limited information, the clinical significance of this variant is uncertain at this time. |