ClinVar Miner

Submissions for variant NM_002454.3(MTRR):c.1266C>T (p.Ala422=)

gnomAD frequency: 0.00001  dbSNP: rs981600908
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 RCV001407967 SCV001609953 likely benign Methylcobalamin deficiency type cblE 2023-10-30 criteria provided, single submitter clinical testing
Natera, Inc. RCV001407967 SCV002077211 likely benign Methylcobalamin deficiency type cblE 2021-09-07 no assertion criteria provided clinical testing

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