ClinVar Miner

Submissions for variant NM_002454.3(MTRR):c.906T>C (p.Asn302=)

gnomAD frequency: 0.00025  dbSNP: rs144729918
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 RCV000945965 SCV001092041 likely benign Methylcobalamin deficiency type cblE 2024-01-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV000945965 SCV001459126 uncertain significance Methylcobalamin deficiency type cblE 2020-03-11 no assertion criteria provided clinical testing

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