ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.6552C>T (p.Ser2184=) (rs565124064)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000166399 SCV000217191 likely benign Hereditary cancer-predisposing syndrome 2014-10-15 criteria provided, single submitter clinical testing
Invitae RCV000550722 SCV000622677 likely benign not provided 2018-11-29 criteria provided, single submitter clinical testing
GeneDx RCV000616185 SCV000732747 likely benign not specified 2017-06-16 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color RCV000166399 SCV000904707 likely benign Hereditary cancer-predisposing syndrome 2018-10-17 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000616185 SCV000916582 likely benign not specified 2019-08-21 criteria provided, single submitter clinical testing

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