ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.1284A>C (p.Lys428Asn) (rs113870881)

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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 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 2019-12-31 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 Praxis fuer Humangenetik Tuebingen RCV000539574 SCV001147831 uncertain significance not provided 2016-05-01 criteria provided, single submitter clinical testing

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