ClinVar Miner

Submissions for variant NM_001366385.1(CARD14):c.1789C>T (p.Arg597Trp)

gnomAD frequency: 0.01118  dbSNP: rs73429414
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000544932 SCV000629235 benign Pityriasis rubra pilaris; Psoriasis 2 2024-01-22 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263747 SCV002543239 benign Autoinflammatory syndrome 2022-02-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003419928 SCV004146295 benign not provided 2022-09-01 criteria provided, single submitter clinical testing CARD14: BP4, BS1, BS2

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