ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.2139A>G (p.Glu713=)

dbSNP: rs2080473610
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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 RCV001470734 SCV001674833 likely benign Ataxia-telangiectasia syndrome 2024-11-11 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004591490 SCV005085796 benign Familial cancer of breast 2024-05-07 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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