ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.7470+5G>T (rs1555524784)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000579280 SCV000681079 uncertain significance not provided 2017-11-16 criteria provided, single submitter clinical testing The c.7470+5 G>T variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.7470+5 G>T variant is not observed in large population cohorts (Lek et al., 2016). Several in silico splice prediction models predict that c.7470+5 G>T may damage or destroy the natural donor site and lead to abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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