ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.1163C>T (p.Ala388Val) (rs75280988)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000198871 SCV000250651 benign not specified 2016-08-19 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 RCV000986220 SCV000261993 benign Shprintzen-Goldberg syndrome 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000198871 SCV000309348 benign not specified criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000436746 SCV000511006 likely benign not provided 2017-01-26 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000986220 SCV000605116 benign Shprintzen-Goldberg syndrome 2018-12-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620843 SCV000738359 benign Cardiovascular phenotype 2017-07-17 criteria provided, single submitter clinical testing Rarity in general population databases (dbsnp, esp, 1000 genomes);Subpopulation frequency in support of benign classification;In silico models in agreement (benign);General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Mendelics RCV000986220 SCV001135152 likely benign Shprintzen-Goldberg syndrome 2019-05-28 criteria provided, single submitter clinical testing

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