ClinVar Miner

Submissions for variant NM_001366385.1(CARD14):c.2140G>A (p.Gly714Ser)

gnomAD frequency: 0.00035  dbSNP: rs151150961
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001043474 SCV001207223 benign Pityriasis rubra pilaris; Psoriasis 2 2024-01-22 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002262614 SCV002543260 likely benign Autoinflammatory syndrome 2019-10-01 criteria provided, single submitter clinical testing
UniProtKB/Swiss-Prot RCV000059696 SCV000091266 not provided not provided no assertion provided not provided

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