ClinVar Miner

Submissions for variant NM_001366385.1(CARD14):c.198C>T (p.Ser66=)

gnomAD frequency: 0.00002  dbSNP: rs1254076623
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000940030 SCV001085886 likely benign Pityriasis rubra pilaris; Psoriasis 2 2023-05-24 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264108 SCV002543252 likely benign Autoinflammatory syndrome 2016-12-12 criteria provided, single submitter clinical testing

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