ClinVar Miner

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

dbSNP: rs12347
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
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.
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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001274264 SCV001717438 benign Methylcobalamin deficiency type cblE 2024-02-01 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
Genome-Nilou Lab RCV001274264 SCV002014296 benign Methylcobalamin deficiency type cblE 2021-09-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004717050 SCV005298627 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001274264 SCV001458158 benign Methylcobalamin deficiency type cblE 2020-09-16 no assertion criteria provided clinical testing

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