ClinVar Miner

Submissions for variant NM_000321.2(RB1):c.45_53del (p.Ala16_Ala18del) (rs572454921)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000173106 SCV000224191 benign not specified 2014-08-25 criteria provided, single submitter clinical testing
Invitae RCV000231673 SCV000284628 benign Retinoblastoma 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000492473 SCV000580866 benign Hereditary cancer-predisposing syndrome 2017-11-30 criteria provided, single submitter clinical testing Subpopulation frequency in support of benign classification;Co-occurence with mutation in same gene (phase unknown);Co-occurence with a mutation in another gene that clearly explains a proband's phenotype
ITMI RCV000173106 SCV000086119 not provided not specified 2013-09-19 no assertion provided reference population

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