ClinVar Miner

Submissions for variant NM_001366385.1(CARD14):c.599G>A (p.Ser200Asn)

dbSNP: rs114688446
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000530376 SCV000629254 benign Pityriasis rubra pilaris; Psoriasis 2 2024-01-30 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002262618 SCV002543324 benign Autoinflammatory syndrome 2022-03-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000059706 SCV002563444 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing CARD14: BP4, BS2
UniProtKB/Swiss-Prot RCV000059706 SCV000091276 not provided not provided no assertion provided not provided

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