ClinVar Miner

Submissions for variant NC_000005.10:g.(?_78020672)_(78089519_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001032630 SCV001195937 uncertain significance Hermansky-Pudlak syndrome 2 2019-09-11 criteria provided, single submitter clinical testing This variant is an in-frame deletion of the genomic region encompassing exons 22-25 of the AP3B1 gene. It preserves the integrity of the reading frame. This variant has not been reported in the literature in individuals with AP3B1-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated for this variant, and the functional significance of this variant is currently 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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