ClinVar Miner

Submissions for variant NM_000254.3(MTR):c.2044-1G>T

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV003988610 SCV004803224 uncertain significance Methylcobalamin deficiency type cblG 2023-10-06 criteria provided, single submitter clinical testing

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