ClinVar Miner

Submissions for variant NM_001366385.1(CARD14):c.1428C>T (p.Pro476=)

gnomAD frequency: 0.00003  dbSNP: rs368432283
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000980375 SCV001128327 benign Pityriasis rubra pilaris; Psoriasis 2 2023-02-27 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264129 SCV002543226 likely benign Autoinflammatory syndrome 2018-07-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002511007 SCV002822432 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing CARD14: BP4, BP7

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