ClinVar Miner

Submissions for variant NM_052859.4(RFT1):c.1458+18A>T

gnomAD frequency: 0.00006  dbSNP: rs373019694
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000418880 SCV000527558 likely benign not specified 2016-05-24 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002059619 SCV002380191 likely benign RFT1-congenital disorder of glycosylation 2024-12-19 criteria provided, single submitter clinical testing

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