ClinVar Miner

Submissions for variant NM_144687.4(NLRP12):c.831G>A (p.Ala277=)

gnomAD frequency: 0.00013  dbSNP: rs371391087
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 RCV001516054 SCV001724266 benign Familial cold autoinflammatory syndrome 2 2023-09-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000921870 SCV001746334 likely benign not provided 2021-03-01 criteria provided, single submitter clinical testing

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