ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.3913_3917+1dup

dbSNP: rs1736099193
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001240926 SCV001413909 uncertain significance Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2019-11-29 criteria provided, single submitter clinical testing This variant, c.3912_3917dup, results in the insertion of 2 amino acid(s) to the WDR19 protein (p.?), but otherwise preserves the integrity of the reading frame. 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. 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 WDR19-related conditions. This variant is not present in population databases (ExAC no frequency).

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