ClinVar Miner

Submissions for variant NM_001048166.1(STIL):c.1055G>A (p.Arg352His)

gnomAD frequency: 0.00323  dbSNP: rs141678367
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224421 SCV000281036 likely benign not provided 2015-10-28 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Eurofins Ntd Llc (ga) RCV000387017 SCV000344257 benign not specified 2016-08-17 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000387017 SCV000597303 benign not specified 2015-08-19 criteria provided, single submitter clinical testing
Invitae RCV000224421 SCV001039965 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001098154 SCV001254502 uncertain significance Microcephaly 7, primary, autosomal recessive 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.
GeneDx RCV000224421 SCV001774228 likely benign not provided 2019-08-22 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23772360)
CeGaT Center for Human Genetics Tuebingen RCV000224421 SCV004123802 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing STIL: BP4, BS2

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