Submissions for variant NM_052813.5(CARD9):c.1312-13CT[2]

dbSNP: rs770532797

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000644013	SCV000765700	likely benign	Predisposition to invasive fungal disease due to CARD9 deficiency	2023-12-01	criteria provided, single submitter	clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	RCV000644013	SCV000898567	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 10 c.1312-9_1312-8delCT: This variant has not been reported in the literature but is present in 21/23952 African alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs770532797). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant represents a deletion of 2 nucleotides in an intronic region and may have an unknown effect on splicing. Further studies are needed to understand its impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
PreventionGenetics, part of Exact Sciences	RCV003905739	SCV004720732	likely benign	CARD9-related condition	2019-06-17	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).