ClinVar Miner

Submissions for variant NM_001366385.1(CARD14):c.633G>A (p.Glu211=)

gnomAD frequency: 0.37893  dbSNP: rs4889990
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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 RCV000455571 SCV000538578 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 RCV001516548 SCV001724844 benign Pityriasis rubra pilaris; Psoriasis 2 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554814 SCV001776120 benign Pityriasis rubra pilaris 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554815 SCV001776121 benign Psoriasis 2 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001707689 SCV001935608 benign not provided 2018-07-05 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV001554814 SCV004032429 uncertain significance 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.However, the role of rs4889990 is yet to be ascertained.
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV000455571 SCV004102130 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 50% of patients studied by a panel of primary immunodeficiencies. Number of patients: 48. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001707689 SCV005248781 benign not provided criteria provided, single submitter not provided

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