ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.2001A>G (p.Leu667=)

gnomAD frequency: 0.00231  dbSNP: rs61749163
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000174698 SCV000226051 benign not specified 2015-05-26 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000361943 SCV000361544 likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae RCV000554914 SCV000645225 benign Severe combined immunodeficiency due to DCLRE1C deficiency 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001310562 SCV001500417 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing DCLRE1C: BP4, BP7, BS2
PreventionGenetics, part of Exact Sciences RCV003917618 SCV004731644 likely benign DCLRE1C-related disorder 2019-03-18 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV000361943 SCV001455070 benign Histiocytic medullary reticulosis 2020-09-16 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001310562 SCV001929916 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001310562 SCV001966256 likely benign not provided no assertion criteria provided clinical testing

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