ClinVar Miner

Submissions for variant NM_144687.4(NLRP12):c.2469C>A (p.Leu823=)

dbSNP: rs12460528
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000244296 SCV000316032 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000376130 SCV000414535 benign Familial cold autoinflammatory syndrome 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000244296 SCV000539907 benign not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001575 SCV001158971 benign Familial cold autoinflammatory syndrome 2 2023-11-29 criteria provided, single submitter clinical testing
Invitae RCV001001575 SCV001723272 benign Familial cold autoinflammatory syndrome 2 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001668604 SCV001885586 benign not provided 2021-05-04 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002262906 SCV002542506 benign Autoinflammatory syndrome 2016-12-12 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV001668604 SCV002074715 not provided not provided no assertion provided phenotyping only Variant interpreted as Benign and reported on 04-27-2020 by Lab or GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. This variant was reported in an individual referred for clinical diagnostic genetic testing.

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