ClinVar Miner

Submissions for variant NM_000321.2(RB1):c.69_71GCC[3] (p.Pro29del) (rs587778823)

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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 RCV000564121 SCV000674726 uncertain significance Hereditary cancer-predisposing syndrome 2017-08-23 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Genetic Diagnostic Laboratory,University of Pennsylvania School of Medicine RCV000474548 SCV000087341 pathogenic Retinoblastoma 2013-09-16 no assertion criteria provided research Damaging according to PolyPhen
Invitae RCV000474548 SCV000551837 likely benign Retinoblastoma 2017-08-23 criteria provided, single submitter clinical testing

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