ClinVar Miner

Submissions for variant NM_001366385.1(CARD14):c.2763C>T (p.Ile921=)

gnomAD frequency: 0.00572  dbSNP: rs150378107
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000632918 SCV000754123 benign Pityriasis rubra pilaris; Psoriasis 2 2024-01-29 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263867 SCV002543285 benign Autoinflammatory syndrome 2019-06-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711245 SCV005248828 benign not provided criteria provided, single submitter not provided

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