ClinVar Miner

Submissions for variant NC_012920.1(MT-TT):m.15909A>G

dbSNP: rs1556424690
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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 RCV000851120 SCV000993354 likely benign MELAS syndrome 2019-07-12 criteria provided, single submitter clinical testing The NC_012920.1:m.15909A>G variant in MT-TT gene is interpreted to be a Likely Benign variant based on the modified ACMG guidelines (unpublished).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: BS1, BP4, BP6
GenomeConnect, ClinGen RCV001249346 SCV001423320 not provided not provided no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 04-21-2015 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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