ClinVar Miner

Submissions for variant NC_012920.1(MT-CYB):m.5640A>G

dbSNP: rs1603220065
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Total submissions: 2
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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 RCV000850820 SCV000993053 likely benign Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 2019-07-12 criteria provided, single submitter clinical testing The NC_012920.1:m.5640A>G variant in MT-TA gene is interpreted to be a Likely Benign variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes reported in the guidelines: BP4, BP6
GenomeConnect, ClinGen RCV001787118 SCV002029147 not provided not provided no assertion provided phenotyping only Variant classified as Uncertain significance and reported on 03-08-2015 by Lab or GTR ID 26957. 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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