Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000665686 | SCV000789845 | likely benign | Fanconi anemia complementation group C | 2017-02-23 | criteria provided, single submitter | clinical testing | |
Preventiongenetics, |
RCV003407513 | SCV004107068 | uncertain significance | FANCC-related condition | 2022-11-21 | criteria provided, single submitter | clinical testing | The FANCC c.1393_1395delCCT variant is predicted to result in an in-frame deletion (p.Pro465del). In the canonical transcript (NM_000136.3) this variant is intronic (c.1329+181_1329+183delCCT). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.045% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/9-97873561-CAGG-C) and has been interpreted as likely benign in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/134307/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
ITMI | RCV000120981 | SCV000085149 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |