ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.437_439dup (p.Leu146dup) (rs1553189926)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000598942 SCV000710305 uncertain significance not provided 2017-12-28 criteria provided, single submitter clinical testing The c.437_439dupTCC variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.437_439dupTCC variant is not observed in large population cohorts (Lek et al., 2016). The c.437_439dupTCC variant results in an in-frame duplication of a single Leucine residue, denoted p.Leu146dup. 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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