ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.1871_1873AGA[2] (p.Lys626del) (rs863223726)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000198612 SCV000250691 uncertain significance not provided 2015-05-06 criteria provided, single submitter clinical testing The c.1877_1879delAGA variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. This variant results in an in-frame deletion of a conserved Lysine residue at position 626 in the SKI protein (p.K626del). No other pathogenic variants have been reported in this region of the gene in association with SGS, indicating that this region of the protein may be tolerant of change.Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant.
Ambry Genetics RCV000620831 SCV000739610 uncertain significance Cardiovascular phenotype 2016-05-24 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence

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