Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001482373 | SCV001686739 | likely benign | Predisposition to invasive fungal disease due to CARD9 deficiency | 2023-10-04 | criteria provided, single submitter | clinical testing | |
Center for Genomics, |
RCV001482373 | SCV003919764 | uncertain significance | Predisposition to invasive fungal disease due to CARD9 deficiency | 2021-03-30 | criteria provided, single submitter | clinical testing | CARD9 NM_052813.4 exon 5 p.Gln212= (c.636G>A): This variant has not been reported in the literature but is present in 0.005% (6/111300) of European alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/9-139265145-C-T). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant suggests that this variant does not cause disease, but requires further evidence. Therefore this variant is classified as likely benign. |