ClinVar Miner

Submissions for variant NM_012092.3(ICOS):c.451G>C (p.Val151Leu) (rs76778263)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000591514 SCV000702664 uncertain significance not provided 2016-10-26 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000999898 SCV000884021 likely benign Common variable immunodeficiency 1 2018-08-01 criteria provided, single submitter clinical testing
Invitae RCV000999898 SCV001118112 likely benign Common variable immunodeficiency 1 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000999898 SCV001298077 uncertain significance Common variable immunodeficiency 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). 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.

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