ClinVar Miner

Submissions for variant NC_000016.10:g.(?_78278583)_(80589366_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000811355 SCV000951616 pathogenic Cataract 21 multiple types; Ayme-Gripp syndrome 2018-10-01 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the MAF gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. This variant has been observed to be de novo in an individual affected with congenital cataracts, tall stature, and learning difficulties (Invitae). For these reasons, this variant has been classified as Pathogenic.

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