ClinVar Miner

Submissions for variant NM_002454.3(MTRR):c.1057+7G>T

gnomAD frequency: 0.00001  dbSNP: rs767794040
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002137693 SCV002420396 likely benign Methylcobalamin deficiency type cblE 2023-08-16 criteria provided, single submitter clinical testing

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