ClinVar Miner

Submissions for variant NM_000254.3(MTR):c.2474-5_2474-4dup

dbSNP: rs546254033
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001786515 SCV002028613 likely benign not provided 2021-05-25 criteria provided, single submitter clinical testing
Invitae RCV003629193 SCV004448962 benign Methylcobalamin deficiency type cblG 2023-08-01 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001699961 SCV001918031 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001699961 SCV001929741 benign not specified no assertion criteria provided clinical testing

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