ClinVar Miner

Submissions for variant NM_144687.4(NLRP12):c.819T>C (p.Pro273=)

gnomAD frequency: 0.00191  dbSNP: rs59749540
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000645652 SCV000767403 benign Familial cold autoinflammatory syndrome 2 2024-01-25 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263890 SCV002542569 benign Autoinflammatory syndrome 2021-03-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000645652 SCV002802560 likely benign Familial cold autoinflammatory syndrome 2 2022-04-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003222077 SCV003918181 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing NLRP12: BP4, BP7
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000645652 SCV004562308 benign Familial cold autoinflammatory syndrome 2 2023-11-29 criteria provided, single submitter clinical testing

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