ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.216C>T (p.Pro72=) (rs756778048)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000225703 SCV000605120 likely benign not specified 2017-05-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000242995 SCV000319962 likely benign Cardiovascular phenotype 2015-08-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Rarity in general population databases (dbsnp, esp, 1000 genomes)
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724766 SCV000224394 uncertain significance not provided 2015-06-08 criteria provided, single submitter clinical testing
GeneDx RCV000225703 SCV000250664 benign not specified 2015-03-02 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 RCV000204079 SCV000261590 likely benign Shprintzen-Goldberg syndrome 2017-12-23 criteria provided, single submitter clinical testing
PreventionGenetics RCV000225703 SCV000309360 likely benign not specified criteria provided, single submitter clinical testing

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