ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.1284A>C (p.Lys428Asn)

gnomAD frequency: 0.00220  dbSNP: rs113870881
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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) RCV000376842 SCV000341615 likely benign not specified 2016-05-19 criteria provided, single submitter clinical testing
Invitae RCV001082962 SCV000645218 likely benign Severe combined immunodeficiency due to DCLRE1C deficiency 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000376842 SCV000732685 likely benign not specified 2018-02-08 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
CeGaT Center for Human Genetics Tuebingen RCV000539574 SCV001147831 uncertain significance not provided 2016-05-01 criteria provided, single submitter clinical testing
Pars Genome Lab RCV001082962 SCV001652828 likely benign Severe combined immunodeficiency due to DCLRE1C deficiency 2021-05-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003920130 SCV004731403 likely benign DCLRE1C-related condition 2024-02-10 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).
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000539574 SCV001929576 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000539574 SCV001967360 likely benign not provided no assertion criteria provided clinical testing

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