ClinVar Miner

Submissions for variant NM_000035.4(ALDOB):c.799+6G>A (rs141888548)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000246592 SCV000301584 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000312799 SCV000476059 uncertain significance Hereditary fructosuria 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000246592 SCV000518663 likely benign not specified 2017-09-06 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000246592 SCV000706102 likely benign not specified 2017-02-02 criteria provided, single submitter clinical testing
Invitae RCV000954410 SCV001101041 likely benign not provided 2019-03-01 criteria provided, single submitter clinical testing

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