ClinVar Miner

Submissions for variant NC_000018.10:g.9134356C>G

gnomAD frequency: 0.11308  dbSNP: rs12454908
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000388894 SCV000483709 likely benign Mitochondrial complex I deficiency 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001527846 SCV001738988 benign not provided 2018-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001527846 SCV005217097 likely benign not provided criteria provided, single submitter not provided

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