ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.1329A>C (p.Leu443=) (rs201460863)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000566908 SCV000672664 likely benign Hereditary cancer-predisposing syndrome 2016-06-23 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,In silico models in agreement (benign)
Color RCV000566908 SCV000681967 likely benign Hereditary cancer-predisposing syndrome 2017-06-19 criteria provided, single submitter clinical testing
GeneDx RCV000443280 SCV000524798 likely benign not specified 2016-02-22 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.

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