ClinVar Miner

Submissions for variant NM_002454.3(MTRR):c.1370+12del

dbSNP: rs1444115346
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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 RCV001500292 SCV001705077 likely benign Methylcobalamin deficiency type cblE 2019-09-16 criteria provided, single submitter clinical testing

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