ClinVar Miner

Submissions for variant NM_001366385.1(CARD14):c.2853G>A (p.Glu951=)

gnomAD frequency: 0.01590  dbSNP: rs78569961
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000540147 SCV000629246 benign Pityriasis rubra pilaris; Psoriasis 2 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001692167 SCV001913818 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263755 SCV002543294 benign Autoinflammatory syndrome 2022-02-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003925595 SCV004740764 benign CARD14-related disorder 2019-05-22 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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