ClinVar Miner

Submissions for variant NM_001048166.1(STIL):c.1455G>C (p.Leu485Phe) (rs139912214)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000174311 SCV000195133 likely benign not specified 2017-04-26 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000174311 SCV000225592 likely benign not specified 2015-08-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000210579 SCV000262963 likely benign Inborn genetic diseases 2013-03-20 criteria provided, single submitter clinical testing
GeneDx RCV000174311 SCV000519711 benign not specified 2018-02-02 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.
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000454157 SCV000537981 likely pathogenic Abnormality of brain morphology criteria provided, single submitter research
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000513904 SCV000610846 likely benign not provided 2017-05-08 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000513904 SCV000692629 likely benign not provided 2019-05-01 criteria provided, single submitter clinical testing
Invitae RCV000513904 SCV001095720 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000986319 SCV001135287 likely benign Primary autosomal recessive microcephaly 7 2019-05-28 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000513904 SCV001145813 benign not provided 2019-06-17 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000986319 SCV001252621 uncertain significance Primary autosomal recessive microcephaly 7 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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