ClinVar Miner

Submissions for variant NM_003849.4(SUCLG1):c.*218A>G

gnomAD frequency: 0.00006  dbSNP: rs570310549
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000336328 SCV000432124 uncertain significance Mitochondrial DNA depletion syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000394271 SCV000432125 uncertain significance Mitochondrial DNA depletion syndrome 9 2016-06-14 criteria provided, single submitter clinical testing

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