ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.185C>G (p.Ala62Gly) (rs28384811)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000128047 SCV000171638 benign not specified 2014-05-16 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.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000128047 SCV000269830 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Ala62Gly in exon 1 of SKI: This variant is not expected to have clinical signifi cance because it has been identified in 10.6% (14/132) of Mexican chromosomes fr om a broad population by the 1000 Genomes Project ( rojects/SNP; dbSNP rs28384811).
PreventionGenetics,PreventionGenetics RCV000128047 SCV000309357 benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755630 SCV000605112 benign not provided 2017-05-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620753 SCV000738302 benign Cardiovascular phenotype 2014-12-30 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

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