ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.6700C>T (p.Leu2234=)

gnomAD frequency: 0.00001  dbSNP: rs760602228
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000166509 SCV000217309 likely benign Hereditary cancer-predisposing syndrome 2014-10-24 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000204108 SCV000261138 likely benign Ataxia-telangiectasia syndrome 2024-01-04 criteria provided, single submitter clinical testing
GeneDx RCV001721083 SCV000515430 likely benign not provided 2020-10-19 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000166509 SCV000682361 likely benign Hereditary cancer-predisposing syndrome 2016-05-02 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000423866 SCV000694329 likely benign not specified 2019-08-21 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001721083 SCV003800195 likely benign not provided 2022-03-23 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004589799 SCV005082372 benign Familial cancer of breast 2024-06-10 criteria provided, single submitter clinical testing This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.
PreventionGenetics, part of Exact Sciences RCV004552923 SCV004709784 likely benign ATM-related disorder 2021-02-19 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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