ClinVar Miner

Submissions for variant NC_000008.11:g.(?_144475137)_(144475776_?)dup

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001032386 SCV001195693 uncertain significance Holoprosencephaly sequence 2019-04-24 criteria provided, single submitter clinical testing This sequence change is a complex rearrangement involving duplication and inversion of exons 1-2 and part of exon 3 of the FOXH1 gene. The exact genomic location of this event is unknown, and its effect on the FOXH1 protein product is uncertain. This variant has not been reported in the literature in individuals with FOXH1-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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