ClinVar Miner

Submissions for variant NC_000002.11:g.(?_149216328)_(149221508_?)dup

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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 RCV003119902 SCV003795166 pathogenic Intellectual disability, autosomal dominant 1 2022-02-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. A similar copy number variant has been observed in individual(s) with clinical features of MBD5-related conditions (Invitae). In at least one individual the variant was observed to be de novo. This variant results in a copy number gain of the genomic region encompassing exon(s) 6-8 of the MBD5 gene. This region includes the initiator codon of the gene. This copy number gain extends beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this event is unknown, it may be in tandem or it may be located elsewhere in the genome.

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