Submissions for variant NM_001184.4(ATR):c.891G>C (p.Lys297Asn)

gnomAD frequency: 0.01036  dbSNP: rs2229033

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000145333	SCV000192412	likely benign	not specified	2013-07-02	criteria provided, single submitter	clinical testing
Vantari Genetics	RCV000210817	SCV000266995	benign	Hereditary cancer-predisposing syndrome	2015-10-23	criteria provided, single submitter	clinical testing
GeneDx	RCV000145333	SCV000730060	benign	not specified	2017-10-11	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001512944	SCV001159512	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001147814	SCV001308660	benign	Seckel syndrome 1	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001512944	SCV001720445	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001512944	SCV002544839	benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	ATR: BP4, BS1, BS2
Genome-Nilou Lab	RCV001147814	SCV003801935	likely benign	Seckel syndrome 1	2023-02-08	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003126538	SCV003801936	likely benign	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome	2023-02-08	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV003126538	SCV004016079	benign	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome	2023-07-07	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001512944	SCV005260846	likely benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000145333	SCV001743946	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001512944	SCV001799133	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001512944	SCV001965295	likely benign	not provided		no assertion criteria provided	clinical testing