ClinVar Miner

Submissions for variant NM_002454.3(MTRR):c.537T>C (p.Leu179=)

gnomAD frequency: 0.20980  dbSNP: rs161870
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000126885 SCV000170414 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 RCV000307309 SCV000458432 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 RCV001274257 SCV001717436 benign Methylcobalamin deficiency type cblE 2024-02-01 criteria provided, single submitter clinical testing
Pars Genome Lab RCV001274257 SCV001745281 benign Methylcobalamin deficiency type cblE 2021-06-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001274257 SCV002014293 benign Methylcobalamin deficiency type cblE 2021-09-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004715724 SCV005298606 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001274257 SCV001458143 benign Methylcobalamin deficiency type cblE 2020-09-16 no assertion criteria provided clinical testing

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