ClinVar Miner

Submissions for variant NM_001366385.1(CARD14):c.378G>A (p.Glu126=)

gnomAD frequency: 0.00247  dbSNP: rs138552007
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000546194 SCV000629252 benign Pityriasis rubra pilaris; Psoriasis 2 2024-01-31 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263758 SCV002543310 benign Autoinflammatory syndrome 2021-04-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003409771 SCV004146287 benign not provided 2022-05-01 criteria provided, single submitter clinical testing CARD14: BS1, BS2

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