Submissions for variant NM_000051.4(ATM):c.1236-3dup

dbSNP: rs34325032

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000159602	SCV000183861	benign	Hereditary cancer-predisposing syndrome	2013-10-11	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Color Diagnostics, LLC DBA Color Health	RCV000159602	SCV000687292	likely benign	Hereditary cancer-predisposing syndrome	2017-06-29	criteria provided, single submitter	clinical testing
GeneDx	RCV001711318	SCV001941541	benign	not provided	2019-08-30	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001798539	SCV002042720	benign	Breast and/or ovarian cancer	2021-04-21	criteria provided, single submitter	clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	RCV001529762	SCV004101955	benign	not specified	2023-11-12	criteria provided, single submitter	clinical testing	This variant is classified as Benign based on local population frequency. This variant was detected in 67% of patients studied by a panel of primary immunodeficiencies. Number of patients: 64. Only high quality variants are reported.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV001529762	SCV004242576	likely benign	not specified	2024-02-06	criteria provided, single submitter	clinical testing
Molecular Genetics, Royal Melbourne Hospital	RCV003993841	SCV004812609	benign	Breast neoplasm	2023-05-04	criteria provided, single submitter	clinical testing	Latino/Admixed American population allele frequency is 37.89% (rs34325032, 9319/23916 alleles, 111 homozygotes in gnomAD v2.1). Based on the classification scheme RMH Modified ACMG/AMP Guidelines v1.3.2, this variant is classified as BENIGN. Following criteria are met: BA1
Myriad Genetics, Inc.	RCV004589655	SCV005084889	likely benign	Familial cancer of breast	2024-04-26	criteria provided, single submitter	clinical testing	This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001529762	SCV001743785	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001711318	SCV001799185	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001529762	SCV001807633	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute	RCV001529762	SCV001906372	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001529762	SCV001919427	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001529762	SCV001964029	benign	not specified		no assertion criteria provided	clinical testing