Submissions for variant NM_002454.3(MTRR):c.1875G>A (p.Val625=)

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Minimum conflict level: Report conflict between different conditions
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Total submissions: 8

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000126881	SCV005726744	benign	not specified	2024-11-11	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004717050	SCV005298627	benign	not provided		criteria provided, single submitter	not provided
Genome-Nilou Lab	RCV001274264	SCV002014296	benign	Methylcobalamin deficiency type cblE	2021-09-05	criteria provided, single submitter	clinical testing
Pars Genome Lab	RCV001274264	SCV001745286	benign	Methylcobalamin deficiency type cblE	2021-06-19	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001274264	SCV001717438	benign	Methylcobalamin deficiency type cblE	2025-02-03	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000341345	SCV000458453	benign	Disorders of Intracellular Cobalamin Metabolism	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx	RCV000126881	SCV000170410	benign	not specified	2013-05-29	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.
Natera, Inc.	RCV001274264	SCV001458158	benign	Methylcobalamin deficiency type cblE	2020-09-16	no assertion criteria provided	clinical testing

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