ClinVar Miner

Submissions for variant NC_000003.12:g.58427626_58427627del

gnomAD frequency: 0.06029  dbSNP: rs35161513
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000379266 SCV000484061 likely benign Pyruvate dehydrogenase complex deficiency 2016-06-14 criteria provided, single submitter clinical testing

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