ClinVar Miner

Submissions for variant NM_000246.4(CIITA):c.2394G>A (p.Pro798=)

gnomAD frequency: 0.16037  dbSNP: rs2229320
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000321727 SCV000394760 benign MHC class II deficiency 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000455062 SCV000538686 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
Labcorp Genetics (formerly Invitae), Labcorp RCV000321727 SCV001727306 benign MHC class II deficiency 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000321727 SCV001761460 benign MHC class II deficiency 2021-07-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004715018 SCV005289591 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV000321727 SCV001462350 benign MHC class II deficiency 2020-09-16 no assertion criteria provided clinical testing

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