ClinVar Miner

Submissions for variant NM_144687.4(NLRP12):c.2141A>G (p.Asn714Ser)

gnomAD frequency: 0.00278  dbSNP: rs150848917
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000312521 SCV000414542 likely benign Familial cold autoinflammatory syndrome 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000645668 SCV000767419 benign Familial cold autoinflammatory syndrome 2 2023-12-22 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263061 SCV002542483 likely benign Autoinflammatory syndrome 2018-04-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001701854 SCV004142681 likely benign not provided 2024-05-01 criteria provided, single submitter clinical testing NLRP12: BP4, BS1
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001701854 SCV001932186 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001701854 SCV001974136 likely benign not provided no assertion criteria provided clinical testing

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