ClinVar Miner

Submissions for variant NM_000254.3(MTR):c.2474-18T>A

gnomAD frequency: 0.42308  dbSNP: rs10925256
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000431137 SCV000515319 benign not specified 2016-02-17 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001518104 SCV001726747 benign Methylcobalamin deficiency type cblG 2024-02-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000431137 SCV001978146 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000431137 SCV001978769 benign not specified no assertion criteria provided clinical testing

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