ClinVar Miner

Submissions for variant NM_144687.4(NLRP12):c.1299A>G (p.Ala433=)

gnomAD frequency: 0.00194  dbSNP: rs73608455
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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 RCV000645653 SCV000767404 benign Familial cold autoinflammatory syndrome 2 2024-01-25 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263891 SCV002542443 likely benign Autoinflammatory syndrome 2021-03-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000645653 SCV002797235 likely benign Familial cold autoinflammatory syndrome 2 2022-04-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003222078 SCV003918179 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing NLRP12: BP4, BP7
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000645653 SCV004563172 benign Familial cold autoinflammatory syndrome 2 2023-11-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV003222078 SCV005310543 benign not provided criteria provided, single submitter not provided

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