Submissions for variant NM_000051.4(ATM):c.4910-4C>T

gnomAD frequency: 0.00001  dbSNP: rs786202493

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000165333	SCV000216056	likely benign	Hereditary cancer-predisposing syndrome	2021-02-27	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	RCV000444016	SCV000512165	likely benign	not specified	2015-12-21	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000628273	SCV000749168	likely benign	Ataxia-telangiectasia syndrome	2024-01-29	criteria provided, single submitter	clinical testing
Counsyl	RCV000628273	SCV000796036	uncertain significance	Ataxia-telangiectasia syndrome	2017-11-30	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000165333	SCV001344859	likely benign	Hereditary cancer-predisposing syndrome	2019-11-25	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV004589770	SCV005085286	likely benign	Familial cancer of breast	2024-05-21	criteria provided, single submitter	clinical testing	This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing.