ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.7089+1G>T (rs777741666)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MVZ Praenatalmedizin und Genetik Nuernberg RCV000465910 SCV000536679 likely pathogenic Familial cancer of breast 2017-03-01 no assertion criteria provided clinical testing (1) rare/private variant (2) highly conserved splice-donor-site (3) multiple in silico analyses with pathogenic consent (4) relevant domains downstream of variant

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