ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.1211+11G>A

gnomAD frequency: 0.00934  dbSNP: rs115186522
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000197227 SCV000250653 benign not specified 2014-08-08 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001519 SCV001158830 benign Shprintzen-Goldberg syndrome 2020-06-19 criteria provided, single submitter clinical testing
Invitae RCV001001519 SCV002408228 benign Shprintzen-Goldberg syndrome 2024-01-26 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000197227 SCV004029463 benign not specified 2023-07-21 criteria provided, single submitter clinical testing

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