ClinVar Miner

Submissions for variant NM_144687.4(NLRP12):c.1437G>A (p.Gln479=)

gnomAD frequency: 0.00294  dbSNP: rs77667763
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000645666 SCV000767417 benign Familial cold autoinflammatory syndrome 2 2024-01-25 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263896 SCV002542450 likely benign Autoinflammatory syndrome 2021-03-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000645666 SCV002813096 likely benign Familial cold autoinflammatory syndrome 2 2022-04-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003222080 SCV003918176 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing NLRP12: BP4, BP7
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000645666 SCV004563168 benign Familial cold autoinflammatory syndrome 2 2023-11-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV003222080 SCV005310539 benign not provided criteria provided, single submitter not provided

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