ClinVar Miner

Submissions for variant NM_000243.2(MEFV):c.297C>T (p.Asn99=) (rs104895175)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000083766 SCV000396785 uncertain significance Familial Mediterranean fever 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588269 SCV000696065 uncertain significance not provided 2016-04-12 criteria provided, single submitter clinical testing Variant summary: The MEFV c.297C>T variant affects a non-conserved nucleotide, resulting in no amino acid change. Mutation Taster predicts a benign outcome for this variant, and 5/5 Alamut algorithms predict no significant change to splicing. This variant was found in 43/116264 control chromosomes at a frequency of 0.0003698, which does not exceed maximal expected frequency of a pathogenic MEFV allele (0.0216506). To our knowledge, the variant had not been reported in FMF patients from the literature at the time of variant classification. Taken together, this variant was classified as a VUS-possibly benign until additional information is available.
Invitae RCV000083766 SCV000753994 benign Familial Mediterranean fever 2017-11-22 criteria provided, single submitter clinical testing
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000083766 SCV000115862 not provided Familial Mediterranean fever no assertion provided not provided

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