ClinVar Miner

Submissions for variant NM_144687.4(NLRP12):c.1881G>A (p.Gln627=)

gnomAD frequency: 0.00019  dbSNP: rs146286014
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000940716 SCV001086581 benign Familial cold autoinflammatory syndrome 2 2023-12-07 criteria provided, single submitter clinical testing

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