ClinVar Miner

Submissions for variant NM_002633.3(PGM1):c.262A>G (p.Ile88Val) (rs855314)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000425439 SCV000514108 benign not specified 2016-01-24 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 Clinical Services Laboratory,Illumina RCV000350881 SCV000358618 likely benign Congenital disorder of glycosylation type 1t 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000389349 SCV000358619 likely benign Congenital disorder of glycosylation 2016-06-14 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000675300 SCV000800965 benign not provided 2017-04-12 no assertion criteria provided clinical testing
SIB Swiss Institute of Bioinformatics RCV000425439 SCV000803446 benign not specified 2018-05-31 criteria provided, single submitter curation This variant is interpreted as a Benign - Stand Alone. The following ACMG Tag(s) were applied: BA1 => Allele frequency is >5% in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium.

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