ClinVar Miner

Submissions for variant NC_000020.11:g.759188G>A

gnomAD frequency: 0.00113  dbSNP: rs544939272
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV000551008 SCV000622149 uncertain significance Brown-Vialetto-van Laere syndrome 1 2016-03-02 criteria provided, single submitter clinical testing Clinically diagnosed with riboflavin transporter deficiency; patient responded to high dose vitamin B2 treatment.

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