ClinVar Miner

Submissions for variant NM_000254.3(MTR):c.1076-16T>C

gnomAD frequency: 0.00001  dbSNP: rs1363188046
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001968378 SCV002242331 likely benign Methylcobalamin deficiency type cblG 2024-10-24 criteria provided, single submitter clinical testing

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