ClinVar Miner

Submissions for variant NM_001366385.1(CARD14):c.2775C>T (p.Val925=)

gnomAD frequency: 0.00003  dbSNP: rs372790630
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000632903 SCV000754108 benign Pityriasis rubra pilaris; Psoriasis 2 2023-12-02 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263857 SCV002543288 likely benign Autoinflammatory syndrome 2021-10-28 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV003326140 SCV004032437 uncertain significance Pityriasis rubra pilaris criteria provided, single submitter clinical testing CARD14 is a scaffold protein that mediates NF-κB signal transduction in skin keratinocytes. Potent mutations in Card14 have been shown to be associated with familial pustular psoriasis and other cutaneous inflammatory conditions like Pytriasis rubra pilaris. However, the role of rs372790630 is yet to be ascertained.

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