ClinVar Miner

Submissions for variant NM_001366385.1(CARD14):c.1264G>A (p.Glu422Lys)

gnomAD frequency: 0.02212  dbSNP: rs61751629
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000552663 SCV000629230 benign Pityriasis rubra pilaris; Psoriasis 2 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001555796 SCV001777263 likely benign not provided 2018-07-09 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 32199921)
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263743 SCV002543215 benign Autoinflammatory syndrome 2022-01-22 criteria provided, single submitter clinical testing

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