ClinVar Miner

Submissions for variant NM_001366385.1(CARD14):c.27C>T (p.Ser9=)

gnomAD frequency: 0.00026  dbSNP: rs9895931
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000896591 SCV001040690 benign Pityriasis rubra pilaris; Psoriasis 2 2024-01-14 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264066 SCV002543289 likely benign Autoinflammatory syndrome 2022-05-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003958061 SCV004772820 likely benign CARD14-related disorder 2022-04-25 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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