ClinVar Miner

Submissions for variant NM_001366385.1(CARD14):c.2044C>T (p.Arg682Trp)

gnomAD frequency: 0.01097  dbSNP: rs117918077
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000547541 SCV000629238 benign Pityriasis rubra pilaris; Psoriasis 2 2024-01-31 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002262613 SCV002543257 benign Autoinflammatory syndrome 2022-03-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000059695 SCV004146299 benign not provided 2024-04-01 criteria provided, single submitter clinical testing CARD14: BS1, BS2; ENSG00000262580: BS1, BS2
UniProtKB/Swiss-Prot RCV000059695 SCV000091265 not provided not provided no assertion provided not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001729377 SCV001978336 benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001729377 SCV001978699 benign not specified no assertion criteria provided clinical testing

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