ClinVar Miner

Submissions for variant NC_000011.9:g.(?_532636)_(533622_?)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 RCV001364984 SCV001561197 uncertain significance Costello syndrome 2021-07-14 criteria provided, single submitter clinical testing Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with HRAS-related conditions. This sequence change is a complex rearrangement of exons 4-5 of the HRAS gene. It results in copy number gains for exons 4 and 5. In addition, there is some indication that part of the sequence may be inverted relative to the reading frame. There is also some indication that the surrounding sequence could be disrupted, but the exact nature of this event is unknown. 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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