ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.7356G>C (p.Leu2452=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002837488 SCV003209046 likely benign Ataxia-telangiectasia syndrome 2022-07-21 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004593069 SCV005084906 benign Familial cancer of breast 2024-06-13 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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