ClinVar Miner

Submissions for variant NM_000254.3(MTR):c.1542A>T (p.Arg514Ser)

gnomAD frequency: 0.00004  dbSNP: rs200479834
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001058876 SCV001223473 likely benign Methylcobalamin deficiency type cblG 2024-01-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505621 SCV002814485 uncertain significance Methylcobalamin deficiency type cblG; Neural tube defects, folate-sensitive 2021-08-04 criteria provided, single submitter clinical testing

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