ClinVar Miner

Submissions for variant NM_144687.4(NLRP12):c.2927+11G>A

gnomAD frequency: 0.00041  dbSNP: rs376043494
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001521065 SCV001730319 benign Familial cold autoinflammatory syndrome 2 2023-12-03 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001521065 SCV004562496 likely benign Familial cold autoinflammatory syndrome 2 2023-08-29 criteria provided, single submitter clinical testing

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