ClinVar Miner

Submissions for variant NM_001395891.1(CLASP1):c.196-601A>C

dbSNP: rs767236617
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002007776 SCV002260803 uncertain significance not provided 2023-12-31 criteria provided, single submitter clinical testing This variant occurs in the RNU4ATAC gene, which encodes an RNA molecule that does not result in a protein product. This variant is present in population databases (no rsID available, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with RNU4ATAC-related conditions. ClinVar contains an entry for this variant (Variation ID: 1474999). Experimental studies and prediction algorithms are not available or were not evaluated, 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.
Undiagnosed Diseases Network, NIH RCV003170294 SCV003915647 uncertain significance Osteodysplastic primordial dwarfism, type 1; Lowry-Wood syndrome 2022-04-02 no assertion criteria provided clinical testing

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