ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.6897C>T (p.Phe2299=)

gnomAD frequency: 0.00002  dbSNP: rs777164914
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000222704 SCV000274173 likely benign Hereditary cancer-predisposing syndrome 2015-02-26 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 RCV000435798 SCV000517896 likely benign not specified 2016-09-21 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 RCV000474934 SCV000558405 likely benign Ataxia-telangiectasia syndrome 2023-10-19 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000222704 SCV001339327 likely benign Hereditary cancer-predisposing syndrome 2019-04-22 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000435798 SCV004813599 likely benign not specified 2024-02-08 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004589932 SCV005084808 benign Familial cancer of breast 2024-06-12 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.

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