ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.99C>G (p.Gly33=) (rs200019352)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755631 SCV000605113 benign not provided 2017-05-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620408 SCV000738299 benign Cardiovascular phenotype 2015-01-23 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000173298 SCV000224395 benign not specified 2015-01-13 criteria provided, single submitter clinical testing
GeneDx RCV000173298 SCV000171637 benign not specified 2014-05-27 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.
Invitae RCV000226611 SCV000287846 benign Shprintzen-Goldberg syndrome 2017-08-03 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000173298 SCV000269831 benign not specified 2015-11-03 criteria provided, single submitter clinical testing p.Gly33Gly in exon 1 of SKI: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. It has been identified in 1.8% (248/13094) of p an ethnic chromosomes including two homozygous individuals by the Exome Aggregat ion Consortium (ExAC, http://exac.broadinstitute.org/; dbSNP rs200019352).
PreventionGenetics RCV000173298 SCV000309367 benign not specified criteria provided, single submitter clinical testing

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