Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000500370 | SCV000594663 | pathogenic | Fanconi anemia complementation group A | 2016-11-11 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000500370 | SCV000893423 | pathogenic | Fanconi anemia complementation group A | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001383377 | SCV001582502 | pathogenic | Fanconi anemia | 2023-11-01 | criteria provided, single submitter | clinical testing | This sequence change affects the initiator methionine of the FANCA mRNA. The next in-frame methionine is located at codon 116. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. Disruption of the initiator codon has been observed in individuals with Fanconi anemia (PMID: 10090479, 15643609, 16084127, 22778927, 23898106, 24584348). ClinVar contains an entry for this variant (Variation ID: 435134). For these reasons, this variant has been classified as Pathogenic. |
Revvity Omics, |
RCV000500370 | SCV002022321 | pathogenic | Fanconi anemia complementation group A | 2021-06-11 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000500370 | SCV000793422 | likely pathogenic | Fanconi anemia complementation group A | 2017-08-24 | no assertion criteria provided | clinical testing | |
Leiden Open Variation Database | RCV000500370 | SCV001425887 | pathogenic | Fanconi anemia complementation group A | 2020-02-28 | no assertion criteria provided | curation | Curator: Arleen D. Auerbach. Submitters to LOVD: Arleen D. Auerbach, Sue Richards. |
Natera, |
RCV001383377 | SCV002093173 | pathogenic | Fanconi anemia | 2021-04-28 | no assertion criteria provided | clinical testing |