ClinVar Miner

Submissions for variant NM_000321.2(RB1):c.2566G>A (p.Asp856Asn) (rs149359120)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000492588 SCV000580829 uncertain significance Hereditary cancer-predisposing syndrome 2017-04-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,Subpopulation frequency in support of benign classification
Clinical Genomics Lab,St. Jude Children's Research Hospital RCV000761059 SCV000890974 uncertain significance B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified 2016-04-11 no assertion criteria provided clinical testing
Invitae RCV000467622 SCV000562085 benign Retinoblastoma 2017-12-06 criteria provided, single submitter clinical testing
Mendelics RCV000467622 SCV000838929 uncertain significance Retinoblastoma 2018-07-02 criteria provided, single submitter clinical testing

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