ClinVar Miner

Submissions for variant NM_000254.3(MTR):c.*5837dup

gnomAD frequency: 0.09233  dbSNP: rs3216014
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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 RCV000403214 SCV000356169 benign Disorders of Intracellular Cobalamin Metabolism 2016-06-14 criteria provided, single submitter clinical testing

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