ClinVar Miner

Submissions for variant NM_002454.3(MTRR):c.21A>G (p.Leu7=)

gnomAD frequency: 0.00007  dbSNP: rs114427781
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000907224 SCV001051914 likely benign Methylcobalamin deficiency type cblE 2024-01-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV000907224 SCV001458086 uncertain significance Methylcobalamin deficiency type cblE 2020-01-24 no assertion criteria provided clinical testing

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