ClinVar Miner

Submissions for variant NM_001366385.1(CARD14):c.1806G>A (p.Ser602=)

gnomAD frequency: 0.00193  dbSNP: rs113127952
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000632902 SCV000754107 benign Pityriasis rubra pilaris; Psoriasis 2 2024-01-04 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263856 SCV002543242 likely benign Autoinflammatory syndrome 2021-01-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003884675 SCV004698981 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing CARD14: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003945588 SCV004758714 benign CARD14-related disorder 2022-10-17 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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