ClinVar Miner

Submissions for variant NM_004895.5(NLRP3):c.306G>A (p.Ser102=) (rs149161277)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000127216 SCV000170770 benign not specified 2013-04-17 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000127216 SCV000967096 benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Ser102Ser in exon 4 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 0.73% (85/11578) of Latino chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadi nstitute.org; dbSNP rs149161277).
Invitae RCV000865469 SCV001006440 benign Cryopyrin associated periodic syndrome 2019-12-31 criteria provided, single submitter clinical testing

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