ClinVar Miner

Submissions for variant NM_002454.3(MTRR):c.1676+2T>C

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003143428 SCV003828399 likely pathogenic Methylcobalamin deficiency type cblE 2022-03-24 criteria provided, single submitter clinical testing
Baylor Genetics RCV004572859 SCV005056018 likely pathogenic Neural tube defects, folate-sensitive 2024-02-14 criteria provided, single submitter clinical testing

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