ClinVar Miner

Submissions for variant NM_001366385.1(CARD14):c.2399-4A>G

gnomAD frequency: 0.40359  dbSNP: rs11653893
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000455493 SCV000538581 benign not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
Labcorp Genetics (formerly Invitae), Labcorp RCV001516552 SCV001724848 benign Pityriasis rubra pilaris; Psoriasis 2 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554349 SCV001775571 benign Pityriasis rubra pilaris 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554350 SCV001775572 benign Psoriasis 2 2021-07-14 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV001554349 SCV004032433 association Pityriasis rubra pilaris criteria provided, single submitter clinical testing CARD14 is a scaffold protein that mediates NF-κB signal transduction in skin keratinocytes. Potent mutations in Card14 have been shown to be associated with familial pustular psoriasis and other cutaneous inflammatory conditions like Pytriasis rubra pilaris. rs11653893 variant is associated with Psoriasis . However, more studies are required to ascertain the role of rs11653893 in Psoriasis
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV000455493 SCV004102090 benign not specified 2023-11-12 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 53% of patients studied by a panel of primary immunodeficiencies. Number of patients: 51. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001824770 SCV005248819 benign not provided criteria provided, single submitter not provided
GenomeConnect, ClinGen RCV001824770 SCV002074581 not provided not provided no assertion provided phenotyping only Variant interpreted as Benign and reported on 04-27-2020 by Lab or GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. This variant was reported in an individual referred for clinical diagnostic genetic testing.

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