ClinVar Miner

Submissions for variant NM_144687.4(NLRP12):c.1599C>T (p.Gly533=)

gnomAD frequency: 0.00006  dbSNP: rs758678359
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 RCV000645657 SCV000767408 benign Familial cold autoinflammatory syndrome 2 2023-02-19 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263893 SCV002542459 likely benign Autoinflammatory syndrome 2016-12-12 criteria provided, single submitter clinical testing

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