ClinVar Miner

Submissions for variant NM_000321.2(RB1):c.-198G>A (rs387906521)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000492684 SCV000580798 pathogenic Hereditary cancer-predisposing syndrome 2017-06-05 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation,Deficient protein function in appropriate functional assay(s),Moderate segregation with disease (at least 3 informative meioses) for rare diseases.,Rarity in general population databases (dbsnp, esp, 1000 genomes),Confirmed de novo alteration in the setting of a new disease (appropriate phenotype) in the family
OMIM RCV000013961 SCV000034208 pathogenic Retinoblastoma 1991-09-05 no assertion criteria provided literature only

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