ClinVar Miner

Submissions for variant NM_001370466.1(NOD2):c.2057G>A (p.Arg686His) (rs104895483)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000658748 SCV000780537 uncertain significance not provided 2017-12-01 criteria provided, single submitter clinical testing
Invitae RCV001085908 SCV001119716 benign Blau syndrome; Inflammatory bowel disease 1 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001121938 SCV001280602 likely benign Inflammatory bowel disease 1 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV000084101 SCV001280603 benign Blau syndrome 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000084101 SCV000116232 not provided Blau syndrome no assertion provided not provided

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