ClinVar Miner

Submissions for variant NM_033409.4(SLC52A3):c.-52+394T>C

gnomAD frequency: 0.00004  dbSNP: rs750886042
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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 RCV000534045 SCV000622148 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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