ClinVar Miner

Submissions for variant NM_177438.2(DICER1):c.4910C>T (p.Ser1637Leu) (rs140875148)

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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 RCV000493303 SCV000581573 likely benign Hereditary cancer-predisposing syndrome 2018-02-06 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other strong data supporting benign classification,In silico models in agreement (benign)
Illumina Clinical Services Laboratory,Illumina RCV000391880 SCV000389734 likely benign Pleuropulmonary blastoma 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000228543 SCV000291702 likely benign DICER1-related pleuropulmonary blastoma cancer predisposition syndrome 2018-01-10 criteria provided, single submitter clinical testing

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