ClinVar Miner

Submissions for variant NM_001366385.1(CARD14):c.185G>A (p.Arg62Gln)

gnomAD frequency: 0.00439  dbSNP: rs115582620
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001082784 SCV000754116 benign Pityriasis rubra pilaris; Psoriasis 2 2024-01-25 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002262612 SCV002543247 likely benign Autoinflammatory syndrome 2021-11-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000059694 SCV004185086 benign not provided 2023-11-01 criteria provided, single submitter clinical testing CARD14: BP4, BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003925021 SCV004743380 likely benign CARD14-related disorder 2024-02-15 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).
UniProtKB/Swiss-Prot RCV000059694 SCV000091264 not provided not provided no assertion provided not provided

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