ClinVar Miner

Submissions for variant NC_000010.11:g.(?_59792917)_(68231677_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV003883491 SCV004697932 likely pathogenic Intellectual developmental disorder, autosomal dominant 70 2024-03-02 criteria provided, single submitter clinical testing A contiguous large heterozygous deletion of size ~8438.76 KB on chromosome 10 chr10:g.(?_59792917)_(68231677_?)del encompassing multiple genes. The coverage and depth of these regions are sufficiently targeted in this assay and hence, the results are likely to be suggestive of a heterozygous deletion of this region [CNV ratio: 0.52]. Contiguous deletion overlapping these genes have previously been reported in the literature [PMID: 28378413]. In summary, the variant meets our criteria to be classified as likely pathogenic.

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