ClinVar Miner

Submissions for variant NM_001366385.1(CARD14):c.1476C>T (p.Phe492=)

gnomAD frequency: 0.00483  dbSNP: rs144710573
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000632913 SCV000754118 benign Pityriasis rubra pilaris; Psoriasis 2 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV001584460 SCV001811079 likely benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263863 SCV002543229 benign Autoinflammatory syndrome 2021-05-03 criteria provided, single submitter clinical testing

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