ClinVar Miner

Submissions for variant NM_052859.4(RFT1):c.1209-6C>T

gnomAD frequency: 0.00007  dbSNP: rs543699868
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599674 SCV000726144 likely benign not specified 2017-12-28 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 RCV001466262 SCV001670263 likely benign RFT1-congenital disorder of glycosylation 2024-01-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003935699 SCV004754529 likely benign RFT1-related condition 2019-06-24 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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