ClinVar Miner

Submissions for variant NM_033409.4(SLC52A3):c.670T>C (p.Phe224Leu) (rs267606685)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000000165 SCV000020308 pathogenic Brown-Vialetto-Van Laere syndrome 1 2010-03-12 no assertion criteria provided literature only
GeneReviews RCV000000165 SCV000246219 pathogenic Brown-Vialetto-Van Laere syndrome 1 2015-03-17 no assertion criteria provided literature only

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