ClinVar Miner

Submissions for variant NM_004895.4(NLRP3):c.1026C>T (p.Pro342=) (rs41311573)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000202912 SCV000257841 benign not specified 2015-06-11 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000202912 SCV000310704 likely benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000202912 SCV000331370 benign not specified 2016-05-23 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000393245 SCV000356936 likely benign Familial cold autoinflammatory syndrome 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000514064 SCV000604555 benign not provided 2017-05-09 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514064 SCV000610270 benign not provided 2017-05-10 criteria provided, single submitter clinical testing
Invitae RCV000514064 SCV000646259 benign not provided 2019-03-06 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000202912 SCV000732035 benign not specified 2017-12-21 criteria provided, single submitter clinical testing p.Pro342Pro in exon 5 of NLRP3: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 0.7% (913/125988) of European chromosomes including homozygotes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org/; dbSNP rs41311573). ACMG/AMP criteri a applied: BS1, BP7 .

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