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

Total submissions: 6

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	2020-12-05	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
Pars Genome Lab	RCV001082962	SCV001652828	likely benign	Severe combined immunodeficiency due to DCLRE1C deficiency	2021-05-18	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000539574	SCV001929576	likely benign	not provided		no assertion criteria provided	clinical testing