ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.728A>G (p.His243Arg)

gnomAD frequency: 0.14770  dbSNP: rs12768894
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000253217 SCV000305991 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000307635 SCV000361557 benign Histiocytic medullary reticulosis 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 RCV000253217 SCV000538774 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
Invitae RCV001510060 SCV001716996 benign Severe combined immunodeficiency due to DCLRE1C deficiency 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001510060 SCV001750446 benign Severe combined immunodeficiency due to DCLRE1C deficiency 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001723845 SCV001950534 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV000253217 SCV004233967 benign not specified 2024-01-24 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 36% of patients studied by a panel of primary immunodeficiencies. Number of patients: 32. Only high quality variants are reported.
Natera, Inc. RCV000307635 SCV001455083 benign Histiocytic medullary reticulosis 2020-09-16 no assertion criteria provided clinical testing

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