Submissions for variant NM_000051.4(ATM):c.4575A>T (p.Ile1525=)

gnomAD frequency: 0.00002  dbSNP: rs781539071

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000166485	SCV000217284	likely benign	Hereditary cancer-predisposing syndrome	2014-10-25	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
GeneDx	RCV001721082	SCV000528320	likely benign	not provided	2019-12-20	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000476448	SCV000558285	likely benign	Ataxia-telangiectasia syndrome	2024-07-30	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000166485	SCV000904613	likely benign	Hereditary cancer-predisposing syndrome	2017-12-11	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000427026	SCV001437360	likely benign	not specified	2020-09-25	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003491907	SCV004240735	likely benign	Breast and/or ovarian cancer	2022-11-14	criteria provided, single submitter	clinical testing