ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.9150A>G (p.Pro3050=)

dbSNP: rs2137928625
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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 RCV002190050 SCV002359900 likely benign Ataxia-telangiectasia syndrome 2022-02-11 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004591739 SCV005084155 benign Familial cancer of breast 2024-06-25 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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