ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.6762C>T (p.His2254=) (rs563933875)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000710678 SCV000840954 likely benign not provided 2018-07-26 criteria provided, single submitter clinical testing
Color RCV000771927 SCV000904719 likely benign Hereditary cancer-predisposing syndrome 2018-03-06 criteria provided, single submitter clinical testing
Invitae RCV000456322 SCV000558397 likely benign Ataxia-telangiectasia syndrome 2016-09-21 criteria provided, single submitter clinical testing

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