ClinVar Miner

Submissions for variant NM_144687.4(NLRP12):c.2222A>G (p.Asn741Ser)

gnomAD frequency: 0.00001  dbSNP: rs548804330
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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 RCV000932105 SCV001077785 likely benign Familial cold autoinflammatory syndrome 2 2025-01-06 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264101 SCV002542491 uncertain significance Autoinflammatory syndrome 2019-04-01 criteria provided, single submitter clinical testing

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