ClinVar Miner

Submissions for variant NM_000156.5(GAMT):c.571-6G>A (rs2074899)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000117116 SCV000168635 benign not specified 2013-06-14 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.
Genetic Services Laboratory, University of Chicago RCV000117116 SCV000151277 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Illumina Clinical Services Laboratory,Illumina RCV000261636 SCV000410906 benign Deficiency of guanidinoacetate methyltransferase 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000368554 SCV000483723 likely benign Mitochondrial complex I deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000276453 SCV000483724 likely benign Leigh syndrome 2016-06-14 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000676878 SCV000802692 benign not provided 2016-02-24 no assertion criteria provided clinical testing
PreventionGenetics RCV000117116 SCV000302737 benign not specified criteria provided, single submitter clinical testing

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