ClinVar Miner

Submissions for variant NC_000005.9:g.140059894_140070834del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001056235 SCV001220667 uncertain significance Usher syndrome, type 3B 2019-11-25 criteria provided, single submitter clinical testing This variant results in the deletion of exons 2-3 and part of exon 1 (c.56_301-426del) of the HARS gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with HARS-related conditions. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in HARS cause disease. 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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