ClinVar Miner

Submissions for variant NM_000254.3(MTR):c.2788_2791del (p.Leu930fs)

dbSNP: rs1666006480
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Inherited Metabolic Diseases, Karolinska University Hospital RCV001353055 SCV001548173 pathogenic Methylcobalamin deficiency type cblG 2021-03-24 criteria provided, single submitter clinical testing

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