ClinVar Miner

Submissions for variant NM_002454.3(MTRR):c.879T>C (p.Thr293=)

gnomAD frequency: 0.00058  dbSNP: rs773629167
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000913645 SCV001058798 benign Methylcobalamin deficiency type cblE 2024-01-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV000913645 SCV001458145 benign Methylcobalamin deficiency type cblE 2020-09-16 no assertion criteria provided clinical testing

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