ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.6396A>G (p.Leu2132=)

gnomAD frequency: 0.00002  dbSNP: rs370537345
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163612 SCV000214179 likely benign Hereditary cancer-predisposing syndrome 2014-11-05 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 RCV000196587 SCV000252972 likely benign Ataxia-telangiectasia syndrome 2024-01-17 criteria provided, single submitter clinical testing
GeneDx RCV001704168 SCV000515515 likely benign not provided 2020-08-17 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000163612 SCV000682332 likely benign Hereditary cancer-predisposing syndrome 2016-11-22 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000439854 SCV000694322 likely benign not specified 2020-12-10 criteria provided, single submitter clinical testing
Counsyl RCV000196587 SCV000793666 likely benign Ataxia-telangiectasia syndrome 2017-08-22 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000163612 SCV002537311 likely benign Hereditary cancer-predisposing syndrome 2021-10-12 criteria provided, single submitter curation
Myriad Genetics, Inc. RCV004589718 SCV005084060 benign Familial cancer of breast 2024-06-06 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.
Natera, Inc. RCV000196587 SCV001452121 uncertain significance Ataxia-telangiectasia syndrome 2020-03-17 no assertion criteria provided clinical testing

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