Submissions for variant NM_001033855.3(DCLRE1C):c.1893C>T (p.Pro631=)

gnomAD frequency: 0.00441  dbSNP: rs41300676

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000174697	SCV000168099	benign	not specified	2013-08-05	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.
Eurofins Ntd Llc (ga)	RCV000174697	SCV000226050	benign	not specified	2014-10-24	criteria provided, single submitter	clinical testing
Invitae	RCV000540517	SCV000645221	benign	Severe combined immunodeficiency due to DCLRE1C deficiency	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001102546	SCV001259227	likely benign	Histiocytic medullary reticulosis	2018-01-12	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001705909	SCV001472596	likely benign	not provided	2020-05-05	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002492462	SCV002797211	likely benign	Severe combined immunodeficiency due to DCLRE1C deficiency; Histiocytic medullary reticulosis	2022-03-17	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001705909	SCV004126477	likely benign	not provided	2022-06-01	criteria provided, single submitter	clinical testing	DCLRE1C: BP4, BP7
Natera, Inc.	RCV001102546	SCV001455073	benign	Histiocytic medullary reticulosis	2020-09-16	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001705909	SCV001928705	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000174697	SCV001964404	benign	not specified		no assertion criteria provided	clinical testing