ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.7708G>T (p.Glu2570Ter) (rs1555124587)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomics Laboratory,Virgen de la Arrixaca University Clinical Hospital RCV000675185 SCV000788333 likely pathogenic Hereditary breast and ovarian cancer syndrome 2018-07-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV001026738 SCV001189175 pathogenic Hereditary cancer-predisposing syndrome 2018-04-13 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)

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