ClinVar Miner

Submissions for variant NM_002454.3(MTRR):c.1716A>C (p.Gly572=)

dbSNP: rs755255468
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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 RCV001505707 SCV001710615 likely benign Methylcobalamin deficiency type cblE 2022-03-22 criteria provided, single submitter clinical testing

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