ClinVar Miner

Submissions for variant NM_001048166.1(STIL):c.1069G>A (p.Ala357Thr)

gnomAD frequency: 0.00194  dbSNP: rs75426387
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147678 SCV000195129 likely benign not specified 2016-04-15 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000147678 SCV000856080 likely benign not specified 2017-08-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000967915 SCV001115338 likely benign not provided 2024-04-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000967915 SCV001147279 uncertain significance not provided 2017-03-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003935253 SCV004751695 likely benign STIL-related disorder 2020-09-21 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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