ClinVar Miner

Submissions for variant NM_144687.4(NLRP12):c.1752G>C (p.Ser584=)

gnomAD frequency: 0.00001  dbSNP: rs769227978
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000997003 SCV001152058 uncertain significance not provided 2016-06-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002067621 SCV002378897 likely benign Familial cold autoinflammatory syndrome 2 2024-07-31 criteria provided, single submitter clinical testing

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