ClinVar Miner

Submissions for variant NM_001366385.1(CARD14):c.2403C>T (p.Ser801=)

gnomAD frequency: 0.00026  dbSNP: rs189286068
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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 RCV000909986 SCV001054827 benign Pityriasis rubra pilaris; Psoriasis 2 2024-01-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264084 SCV002543270 likely benign Autoinflammatory syndrome 2019-12-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003424466 SCV004146301 benign not provided 2022-07-01 criteria provided, single submitter clinical testing CARD14: BS1, BS2

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