ClinVar Miner

Submissions for variant NM_002454.3(MTRR):c.399A>G (p.Val133=)

gnomAD frequency: 0.00001  dbSNP: rs560392566
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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 RCV000925232 SCV001070766 likely benign Methylcobalamin deficiency type cblE 2023-10-23 criteria provided, single submitter clinical testing
Natera, Inc. RCV000925232 SCV001459120 uncertain significance Methylcobalamin deficiency type cblE 2020-03-10 no assertion criteria provided clinical testing

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