ClinVar Miner

Submissions for variant NM_001366385.1(CARD14):c.312C>T (p.Thr104=)

gnomAD frequency: 0.00001  dbSNP: rs768362011
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000939588 SCV001085437 likely benign Pityriasis rubra pilaris; Psoriasis 2 2023-02-22 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264106 SCV002543304 uncertain significance Autoinflammatory syndrome 2021-03-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003925830 SCV004743746 likely benign CARD14-related disorder 2019-05-28 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).

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