ClinVar Miner

Submissions for variant NM_004895.4(NLRP3):c.1606C>T (p.Leu536=) (rs116054301)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000271977 SCV000356968 likely benign Chronic infantile neurological, cutaneous and articular syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000329355 SCV000356969 likely benign Familial amyloid nephropathy with urticaria AND deafness 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000386148 SCV000356970 likely benign Familial cold autoinflammatory syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000553030 SCV000646264 benign Cryopyrin associated periodic syndrome 2017-12-29 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000254018 SCV000967100 benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Leu536Leu in exon 5 of NLRP3: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 1.69% (175/10352) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broa dinstitute.org; dbSNP rs116054301).
PreventionGenetics RCV000254018 SCV000310708 benign not specified criteria provided, single submitter clinical testing
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000084199 SCV000116332 not provided Familial cold urticaria no assertion provided not provided

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