ClinVar Miner

Submissions for variant NM_000243.2(MEFV):c.1245C>T (p.Val415=) (rs104895195)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000590208 SCV000696043 likely benign not specified 2019-08-28 criteria provided, single submitter clinical testing
Invitae RCV000083686 SCV001020138 likely benign Familial Mediterranean fever 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000877404 SCV001150752 likely benign not provided 2019-02-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000083686 SCV001277730 uncertain significance Familial Mediterranean fever 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000083686 SCV000115773 not provided Familial Mediterranean fever no assertion provided not provided

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