ClinVar Miner

Submissions for variant NM_001366385.1(CARD14):c.2496C>T (p.Leu832=)

gnomAD frequency: 0.00506  dbSNP: rs139789664
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000632910 SCV000754115 benign Pityriasis rubra pilaris; Psoriasis 2 2024-01-29 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263862 SCV002542564 benign Autoinflammatory syndrome 2022-05-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001702697 SCV002563445 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing CARD14: BP4, BP7
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702697 SCV001928951 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001702697 SCV001971270 likely benign not provided no assertion criteria provided clinical testing

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