ClinVar Miner

Submissions for variant NM_018713.3(SLC30A10):c.1235del (p.Gln412fs)

dbSNP: rs281860292
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000023874 SCV000045165 pathogenic Hypermanganesemia with dystonia, polycythemia, and cirrhosis 2012-03-09 no assertion criteria provided literature only
GeneReviews RCV000023874 SCV000054644 not provided Hypermanganesemia with dystonia, polycythemia, and cirrhosis no assertion provided literature only

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