ClinVar Miner

Submissions for variant NM_000254.3(MTR):c.1559A>G (p.Tyr520Cys)

gnomAD frequency: 0.00002  dbSNP: rs1242741686
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000986575 SCV001135595 likely pathogenic Methylcobalamin deficiency type cblG 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000986575 SCV001403311 uncertain significance Methylcobalamin deficiency type cblG 2021-08-31 criteria provided, single submitter clinical testing

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