ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.1924G>T (p.Glu642Ter)

dbSNP: rs1057519364
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005042452 SCV005681225 likely pathogenic Familial cancer of breast; Ataxia-telangiectasia syndrome 2024-03-01 criteria provided, single submitter clinical testing
Dr. Peter K. Rogan Lab, Western University RCV000416923 SCV000262589 likely pathogenic Hereditary breast ovarian cancer syndrome 2015-12-22 no assertion criteria provided research Sequenced patient with familial breast cancer

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