ClinVar Miner

Submissions for variant NM_170784.2(MKKS):c.1015A>G (p.Ile339Val) (rs137853909)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000173033 SCV000203022 likely benign not specified 2015-01-17 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000173033 SCV000297289 benign not specified 2015-09-23 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000173033 SCV000313269 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000173033 SCV000520964 likely benign not specified 2016-09-27 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 RCV000086969 SCV000557436 benign not provided 2018-10-21 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000173033 SCV000595790 likely benign not specified 2017-04-05 criteria provided, single submitter clinical testing
SIB Swiss Institute of Bioinformatics RCV000677321 SCV000803528 benign Bardet-Biedl syndrome 6 2018-05-31 criteria provided, single submitter curation This variant is interpreted as a Benign, for Bardet-biedl syndrome 6, in Autosomal Recessive manner. The following ACMG Tag(s) were applied: BP4 => Multiple lines of computational evidence suggest no impact on gene or gene product (conservation, evolutionary, splicing impact, etc.). BS1 => Allele frequency is greater than expected for disorder. BS2 => Observed in a healthy adult individual for a recessive (homozygous), dominant (heterozygous), or X-linked (hemizygous) disorder, with full penetrance expected at an early age.
NEI Ophthalmic Genomics Laboratory,National Institutes of Health RCV000086969 SCV000119222 not provided not provided no assertion provided not provided
Tolun Lab, Human Genetics Laboratory,Bogazici University RCV000585746 SCV000583517 uncertain significance McKusick Kaufman syndrome no assertion criteria provided research

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