ClinVar Miner

Submissions for variant NM_000193.4(SHH):c.1102G>T (p.Glu368Ter)

dbSNP: rs753315599
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000824859 SCV000965761 likely pathogenic Microphthalmia, isolated, with coloboma 5 2015-01-01 criteria provided, single submitter clinical testing

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