ClinVar Miner

Submissions for variant NM_145178.4(ATOH7):c.146A>T (p.Glu49Val) (rs587777664)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000133577 SCV000188645 pathogenic Persistent hyperplastic primary vitreous, autosomal recessive 2012-02-15 no assertion criteria provided literature only

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