ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.4551T>C (p.Leu1517=) (rs1459998980)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000583217 SCV000687560 likely benign Hereditary cancer-predisposing syndrome 2015-08-03 criteria provided, single submitter clinical testing
Invitae RCV000940331 SCV001086192 likely benign not provided 2018-09-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV000583217 SCV001184448 likely benign Hereditary cancer-predisposing syndrome 2019-04-29 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign

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