ClinVar Miner

Submissions for variant NC_000012.12:g.32744154A>T

gnomAD frequency: 0.15585  dbSNP: rs1971911
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000377247 SCV000483354 likely benign Myopathy, lactic acidosis, and sideroblastic anemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000285137 SCV000483355 likely benign Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004705256 SCV005216589 likely benign not provided criteria provided, single submitter not provided

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