ClinVar Miner

Submissions for variant NM_001366385.1(CARD14):c.1530G>A (p.Pro510=)

dbSNP: rs376285944
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001426943 SCV001629610 likely benign Pityriasis rubra pilaris; Psoriasis 2 2023-08-17 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264312 SCV002543231 likely benign Autoinflammatory syndrome 2016-12-12 criteria provided, single submitter clinical testing

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