ClinVar Miner

Submissions for variant NM_001366385.1(CARD14):c.2859G>A (p.Ala953=)

gnomAD frequency: 0.00386  dbSNP: rs139969019
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000554894 SCV000629247 benign Pityriasis rubra pilaris; Psoriasis 2 2024-01-25 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263756 SCV002543295 likely benign Autoinflammatory syndrome 2021-08-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003409770 SCV004146306 benign not provided 2022-08-01 criteria provided, single submitter clinical testing CARD14: BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003915495 SCV004731194 benign CARD14-related disorder 2019-04-01 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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