ClinVar Miner

Submissions for variant NM_144687.4(NLRP12):c.153C>T (p.Ala51=)

gnomAD frequency: 0.00004  dbSNP: rs757210851
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002544543 SCV001084289 likely benign Familial cold autoinflammatory syndrome 2 2022-09-13 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264104 SCV002542452 likely benign Autoinflammatory syndrome 2021-12-08 criteria provided, single submitter clinical testing

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