ClinVar Miner

Submissions for variant NM_033409.4(SLC52A3):c.1198-2A>C (rs754753126)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000024020 SCV000045311 pathogenic Progressive bulbar palsy of childhood 2011-02-01 no assertion criteria provided literature only
GeneReviews RCV000191970 SCV000246225 pathogenic Brown-Vialetto-Van Laere syndrome 1 2015-03-17 no assertion criteria provided literature only

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