ClinVar Miner

Submissions for variant NC_000016.10:g.(?_79594440)_(79599922_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001031552 SCV001194858 pathogenic Cataract 21 multiple types; Ayme-Gripp syndrome 2020-10-07 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in MAF are known to be pathogenic (Invitae). This variant has been observed to be de novo in an individual with congenital cataracts, tall stature and learning difficulties (Invitae). 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.

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