Submissions for variant NM_000051.4(ATM):c.3577-13T>C

gnomAD frequency: 0.00006  dbSNP: rs587780856

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000123743	SCV000167086	benign	not specified	2014-04-23	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.
Illumina Laboratory Services, Illumina	RCV000343406	SCV000367048	uncertain significance	Ataxia-telangiectasia syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000580674	SCV000682143	likely benign	Hereditary cancer-predisposing syndrome	2015-04-25	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000343406	SCV002341010	likely benign	Ataxia-telangiectasia syndrome	2024-01-31	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV004589617	SCV005083924	benign	Familial cancer of breast	2024-05-15	criteria provided, single submitter	clinical testing	This variant is considered benign. This variant is intronic and is not expected to impact mRNA splicing. This variant is strongly associated with less severe personal and family histories of cancer, typical for individuals without pathogenic variants in this gene [PMID: 25085752].
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001795221	SCV002033945	uncertain significance	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001795221	SCV002036778	uncertain significance	not provided		no assertion criteria provided	clinical testing