ClinVar Miner

Submissions for variant NM_003849.3(SUCLG1):c.-107A>G

gnomAD frequency: 0.00764  dbSNP: rs140936198
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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 RCV000267322 SCV000432174 uncertain significance Mitochondrial DNA depletion syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000303784 SCV000432175 uncertain significance Mitochondrial DNA depletion syndrome 9 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003311768 SCV004011183 benign not provided 2023-07-01 criteria provided, single submitter clinical testing SUCLG1: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV003311768 SCV005187775 uncertain significance not provided criteria provided, single submitter not provided

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