ClinVar Miner

Submissions for variant NM_000254.3(MTR):c.996-5C>T

gnomAD frequency: 0.00004  dbSNP: rs914525473
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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 RCV000931504 SCV001077172 likely benign Methylcobalamin deficiency type cblG 2023-08-04 criteria provided, single submitter clinical testing

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