ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.2697C>T (p.Asp899=)

gnomAD frequency: 0.00003  dbSNP: rs786202978
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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 RCV000166073 SCV000216836 likely benign Hereditary cancer-predisposing syndrome 2014-10-08 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 RCV001721077 SCV000532002 likely benign not provided 2019-11-26 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000166073 SCV000682071 likely benign Hereditary cancer-predisposing syndrome 2016-08-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000875000 SCV001017263 likely benign Ataxia-telangiectasia syndrome 2025-01-27 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV003493475 SCV004243424 likely benign not specified 2025-03-04 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004589782 SCV005082032 benign Familial cancer of breast 2024-05-10 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.
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV004589782 SCV005880896 benign Familial cancer of breast 2025-02-01 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV004589782 SCV005913675 likely benign Familial cancer of breast 2023-12-06 criteria provided, single submitter clinical testing

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