ClinVar Miner

Submissions for variant NM_001368894.2(PAX6):c.192C>A (p.Asn64Lys)

dbSNP: rs727504064
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000153641 SCV000203191 uncertain significance not provided 2014-02-27 criteria provided, single submitter clinical testing
Paul Sabatier University EA-4555, Paul Sabatier University RCV000207422 SCV000259110 pathogenic Anophthalmia-microphthalmia syndrome 2013-01-01 criteria provided, single submitter clinical testing rare variant, predicted pathogenic in silico (Polyphen-2), de novo

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