Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000476740 | SCV000547749 | likely benign | Fanconi anemia | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000765329 | SCV000896590 | uncertain significance | Fanconi anemia complementation group A | 2021-10-08 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003418177 | SCV004115234 | uncertain significance | FANCA-related condition | 2023-06-19 | criteria provided, single submitter | clinical testing | The FANCA c.1772G>A variant is predicted to result in the amino acid substitution p.Arg591Gln. This variant was reported in an individual with premature ovarian insufficiency (Yang et al. 2019. PubMed ID: 31535215). This variant is reported in 0.19% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/16-89845355-C-T) and has conflicting interpretations of likely benign and uncertain in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/408177/). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
Natera, |
RCV000765329 | SCV001457943 | uncertain significance | Fanconi anemia complementation group A | 2020-09-16 | no assertion criteria provided | clinical testing |