ClinVar Miner

Submissions for variant NM_000254.3(MTR):c.2482G>A (p.Gly828Ser)

dbSNP: rs1413989228
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000986576 SCV001135596 likely pathogenic Methylcobalamin deficiency type cblG 2019-05-28 criteria provided, single submitter clinical testing

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