ClinVar Miner

Submissions for variant NM_001363118.2(SLC52A2):c.92G>C (p.Trp31Ser)

gnomAD frequency: 0.00001  dbSNP: rs797045199
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000191982 SCV000246238 not provided Brown-Vialetto-van Laere syndrome 2 no assertion provided literature only

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