Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Research Center, |
RCV000714633 | SCV000845346 | uncertain significance | Frontometaphyseal dysplasia 1 | 2018-08-07 | criteria provided, single submitter | clinical testing | |
Genomic Research Center, |
RCV000714634 | SCV000845347 | uncertain significance | FG syndrome 2 | 2018-08-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002532972 | SCV003287553 | benign | Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia | 2022-09-25 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003892576 | SCV004709498 | uncertain significance | FLNA-related condition | 2023-11-01 | criteria provided, single submitter | clinical testing | The FLNA c.2122C>T variant is predicted to result in the amino acid substitution p.Arg708Trp. This variant has been reported hemizygous in a fetus with omphalocele (Chen et al. 2020. PubMed ID: 32502767, Table 3). It has been reported in only 3 of ~182,000 alleles (~0.002%) in the gnomAD public population database (https://gnomad.broadinstitute.org/variant/X-153592641-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |