ClinVar Miner

Submissions for variant NM_003849.3(SUCLG1):c.-133C>T

gnomAD frequency: 0.01126  dbSNP: rs12621740
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000365662 SCV000432176 likely benign Mitochondrial DNA depletion syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000271000 SCV000432177 likely benign Mitochondrial DNA depletion syndrome 9 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001582984 SCV001820401 likely benign not provided 2018-07-26 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001582984 SCV005257632 likely benign not provided criteria provided, single submitter not provided

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