Submissions for variant NM_000051.3(ATM):c.4258C>T (p.Leu1420Phe) (rs1800058)

Total submissions: 16

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000119139	SCV000153854	benign	Ataxia-telangiectasia syndrome	2019-12-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000116425	SCV000167089	benign	not specified	2013-10-15	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.
Ambry Genetics	RCV000130979	SCV000185896	uncertain significance	Hereditary cancer-predisposing syndrome	2020-06-12	criteria provided, single submitter	clinical testing	See homoz.
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia	RCV000116425	SCV000257605	benign	not specified	2015-07-15	criteria provided, single submitter	clinical testing
Vantari Genetics	RCV000130979	SCV000266991	benign	Hereditary cancer-predisposing syndrome	2016-02-03	criteria provided, single submitter	clinical testing
PreventionGenetics,PreventionGenetics	RCV000116425	SCV000301668	benign	not specified		criteria provided, single submitter	clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics	RCV000116425	SCV000332306	benign	not specified	2015-06-16	criteria provided, single submitter	clinical testing
Color	RCV000130979	SCV000537361	benign	Hereditary cancer-predisposing syndrome	2014-11-24	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories	RCV000119139	SCV000602559	benign	Ataxia-telangiectasia syndrome	2018-08-02	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht	RCV000119139	SCV000743727	likely benign	Ataxia-telangiectasia syndrome	2014-10-09	criteria provided, single submitter	clinical testing
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C.	RCV000130979	SCV000803143	likely benign	Hereditary cancer-predisposing syndrome	2018-05-23	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000119139	SCV001263901	likely benign	Ataxia-telangiectasia syndrome	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 determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
ITMI	RCV000116425	SCV000084277	not provided	not specified	2013-09-19	no assertion provided	reference population
Genetic Services Laboratory,University of Chicago	RCV000116425	SCV000150350	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam	RCV000119139	SCV000745813	benign	Ataxia-telangiectasia syndrome	2015-10-05	no assertion criteria provided	clinical testing
True Health Diagnostics	RCV000130979	SCV000787864	benign	Hereditary cancer-predisposing syndrome	2018-02-20	no assertion criteria provided	clinical testing