ClinVar Miner

Submissions for variant NM_024782.3(NHEJ1):c.588+18131A>G

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
The Morris Kahn Laboratory of Human Genetics, Ben-Gurion University of the Negev RCV003236670 SCV002769719 likely pathogenic Isolated anophthalmia-microphthalmia syndrome criteria provided, single submitter research In a new study, combining bioinformatics, molecular genetics and chicken and mouse developmental studies, we delineate an Indian Hedgehog eye enhancer, whose mutation (NG_007880.1(NM_024782.2):c.588+18131A>G) causes isolated human microphthalmia-anophthalmia-coloboma (ORPHA:2542), in Iranian Jewish kindreds.
OMIM RCV004731275 SCV005328509 pathogenic MICROPHTHALMIA/COLOBOMA 13 2024-09-27 no assertion criteria provided literature only

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