ClinVar Miner

Submissions for variant NM_144687.4(NLRP12):c.2052G>A (p.Ala684=)

gnomAD frequency: 0.00003  dbSNP: rs755768331
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000762034 SCV000892279 likely benign not provided 2018-06-01 criteria provided, single submitter clinical testing
Invitae RCV001078697 SCV001090576 likely benign Familial cold autoinflammatory syndrome 2 2023-07-14 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263963 SCV002542478 uncertain significance Autoinflammatory syndrome 2019-07-01 criteria provided, single submitter clinical testing

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