ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.1020C>A (p.Ala340=)

dbSNP: rs546927781
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000122815 SCV000166072 benign Ataxia-telangiectasia syndrome 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV000163834 SCV000214420 likely benign Hereditary cancer-predisposing syndrome 2015-01-08 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 RCV001704040 SCV000521749 likely benign not provided 2019-08-14 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 11606401)
Color Diagnostics, LLC DBA Color Health RCV000163834 SCV000681945 likely benign Hereditary cancer-predisposing syndrome 2015-08-13 criteria provided, single submitter clinical testing
Counsyl RCV000122815 SCV000789980 likely benign Ataxia-telangiectasia syndrome 2017-02-28 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000437511 SCV000918529 likely benign not specified 2021-01-29 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000163834 SCV002529652 likely benign Hereditary cancer-predisposing syndrome 2021-01-27 criteria provided, single submitter curation
Myriad Genetics, Inc. RCV004589592 SCV005082008 benign Familial cancer of breast 2024-04-24 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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