Submissions for variant NM_001048166.1(STIL):c.2017A>G (p.Ser673Gly)

gnomAD frequency: 0.01146  dbSNP: rs140448154

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000147683	SCV000195134	benign	not specified	2013-02-08	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000224432	SCV000280654	likely benign	not provided	2015-10-27	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
GeneDx	RCV000147683	SCV000514787	benign	not specified	2015-09-18	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	RCV000224432	SCV001105301	benign	not provided	2024-01-22	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001101840	SCV001258481	benign	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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Fulgent Genetics, Fulgent Genetics	RCV001101840	SCV002799485	likely benign	Microcephaly 7, primary, autosomal recessive	2021-09-28	criteria provided, single submitter	clinical testing