ClinVar Miner

Submissions for variant NM_144687.4(NLRP12):c.1170C>T (p.Tyr390=)

gnomAD frequency: 0.00109  dbSNP: rs146245368
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000645656 SCV000767407 benign Familial cold autoinflammatory syndrome 2 2025-01-17 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004717699 SCV005310545 benign not provided criteria provided, single submitter not provided

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