ClinVar Miner

Submissions for variant NC_012920.1:m.14706A>G (rs1057516070)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000851097 SCV000993331 benign Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 2019-07-12 criteria provided, single submitter clinical testing The NC_012920.1:m.14706A>G variant in MT-TE gene is interpreted to be a Benign variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes reported in the guidelines: BS1, BS4, BP4
Center for Neuroscience and Cell Biology,University of Coimbra, Portugal RCV000408954 SCV000484536 uncertain significance Developmental delay 2016-11-21 no assertion criteria provided clinical testing
Center for Neuroscience and Cell Biology,University of Coimbra, Portugal RCV000408927 SCV000484537 uncertain significance Sudden death; Episodic vomiting; Mild liver congestion 2016-11-21 no assertion criteria provided clinical testing
GenomeConnect, ClinGen RCV000662335 SCV000784693 not provided not provided no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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