ClinVar Miner

Submissions for variant NM_018713.3(SLC30A10):c.585del (p.Thr196fs)

dbSNP: rs281860288
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000726453 SCV000344755 pathogenic not provided 2016-08-09 criteria provided, single submitter clinical testing
OMIM RCV000023872 SCV000045163 pathogenic Hypermanganesemia with dystonia, polycythemia, and cirrhosis 2012-03-09 no assertion criteria provided literature only
GeneReviews RCV000023872 SCV000054650 not provided Hypermanganesemia with dystonia, polycythemia, and cirrhosis no assertion provided literature only

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