Submissions for variant NM_001048166.1(STIL):c.3581C>T (p.Pro1194Leu)

gnomAD frequency: 0.00220  dbSNP: rs144746030

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000192940	SCV000249060	uncertain significance	not specified	2015-02-12	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000726047	SCV000341500	uncertain significance	not provided	2016-06-07	criteria provided, single submitter	clinical testing
Invitae	RCV000726047	SCV001033845	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001096323	SCV001252523	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.
CeGaT Center for Human Genetics Tuebingen	RCV000726047	SCV001748144	uncertain significance	not provided	2022-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000726047	SCV001802647	likely benign	not provided	2020-03-11	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003927809	SCV004744777	benign	STIL-related condition	2019-09-06	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).