ClinVar Miner

Submissions for variant NM_000254.2(MTR):c.*16del (rs67705775)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000314958 SCV000356064 uncertain significance Disorders of Intracellular Cobalamin Metabolism 2016-06-14 criteria provided, single submitter clinical testing
Mendelics RCV000986577 SCV001135597 benign Methylcobalamin deficiency type cblG 2019-05-28 criteria provided, single submitter clinical testing

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